Category Archives: Gene-ius: Human

Exclusive to GLP, the most ingenious, advanced and futuristic work in the field of genetics and biotechnology can be found in the Gene-ius section. We highlight the exceedingly clever, creative, fascinating and the astounding. Although these topics may seem to exceed natural biological limitations–as if ripped from science fiction–they are in fact, very real and based in real science.

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Why are scientists vilified when they profit from their innovations?

“Evolution right now is in the market place,” Harvard geneticist and transhumanist poster boy George Church told an MIT conference recently. The Economist quoted Church in the context of altering humans to solve the problems a growing population creates in the world.

But Pete Shanks at Huffington Post chose to quote Church in the title of a piece in which he tries to insinuate that all of the researcher’s accomplishments and future ideas are dulled in some way by the fact he might make money off of them.

Shanks points out, as does The Economist’s correspondent, that Church is a founder of 12 biotech companies which have largely sprung out of his laboratory work at Harvard. Some of them are pretty out there, including bringing back extinct species:

Dr Church thinks that woolly mammoths could help prevent the Arctic permafrost from melting. Their grazing would invigorate the flora growing on the surface, which would provide more protection from the sun. His laboratory is developing a robotic system called multiplex automated genome engineering (MAGE) that can perform up to 50 different genome alterations at nearly the same time, creating billions of variants in a matter of hours. MAGE would allow scientists to start with an intact genome of a living Asian elephant and change it wholesale into one that is comparable to an extinct mammoth, using information pieced together from frozen fragments of mammoths.

But others, like the $100 genome, are fast approaching and will be marketable technologies soon, whether Church and his colleagues profit off of them or leave someone else to capitalize.

So why should Church and researchers like him who move between the world of academia and private sector businesses be differently accountable?  In Shanks’ view, it’s either a mix of the fact that some of Church’s ideas read like science fiction — he gives several examples in his post, possibly alleging some sort of intellectual theft — or because the subject matter Church takes on is so epic that capitalism should be trivialized in comparison:

But [Church] does have a very capitalist orientation, leading him to tell the magazine, “We’re well beyond Darwinian limitations to evolution. Evolution right now is in the marketplace.” Church is expressing here an odd combination of hubris and passivity. His ambition takes him “beyond Darwinian limitations” — he can casually discard a few billion years of evolution — and yet he is irresistibly bound to the current economic system. He has that the wrong way round.

But Church’s humanity-oriented ideas aren’t different in spirit than what already happens in the world of healthcare. Every drug that comes out of academic development and ends up with an iconic TV ad followed the same path. Remember those bathtubs? So do CT scanners and MRI machines and patents on breast cancer genes.

Shanks quotes Israeli historian Yuval Noah Harari’s new book that alleges the optimists might not have it right when it comes to transhumanist technologies. He writes that the availability of extreme anti-aging, gene altering and brain uploading technologies will further indemnify our classicist systems, where the very rich have access and the poor must comparatively suffer. But again, that happens everyday in our modern healthcare system. Rich people can afford to replace teeth when they lose them; poor people are often left to change how they smile.

The status quo is decidedly unjust, but shuttling pointed comments about George Church’s bank accounts back and forth across the internet is not going to change that. If Shanks’ message is that those on the cutting edge of biology have a  moral obligation to make these emerging technologies available and affordable to everyone, he should just say that.

Meredith Knight is editor of the human genetics section for Genetic Literacy Project and a freelance science and health writer in Austin, Texas. Follow her @meremereknight.

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Lesson from Ebola: Tobacco plant key to developing GMO drugs of the future

I recently had the most absurd exchange of tweets with an anti-GMO activist that went something like this:

Me (not tweeting to anyone in particular): Today, 93 percent of Americans understand that tobacco causes lung cancer, various other cancers, heart disease and strokes. That’s because the evidence has been public for more than 60 years.

Anti-GMO guy: You’re misinformed. My grandfather was an organic farmer who smoked and lived to 100; tobacco causes cancer, only when it’s GMO tobacco, which is what most tobacco companies are using these days .

The irony here is that, while any tobacco is harmful if smoked, there’s a kind of tobacco that’s being put to positive use—namely, the use of the plant to produce antibodies that make up the drug ZMapp for treating Ebola virus–and it’s GMO tobacco. Compared with bacteria, the more commonly genetically engineered organisms, the tobacco plant can produce the needed ZMapp antibodies more quickly and in greater numbers. Because of the unique qualities of the tobacco plant, it turns out that it is incredibly useful to use for research purposes, particularly in developing life saving pharmaceuticals As for non-GMO (natural) tobacco, that’s still useful only to deliver carcinogens into people’s lungs.

What do the polls show?

The anti-GMO grandson of the organic smoking centenarian represents the extreme end of a public opinion spectrum. Even if rationalization still keeps many people smoking, most people today do actually know that the smoking-cancer connection is due to the carcinogenic chemicals that occur naturally in tobacco leaves and other carcinogens that are created when other naturally occurring chemicals in the plant are burned. That was the one good finding of a recent poll conducted by Pew and the American Association for the Advancement of Science (AAAS), but that poll also revealed huge gaps between the public and scientists on a host of other issues, including GMO safety. While 88 percent of its member scientists consider GMO foods safe, only 37 percent of the public is as sanguine.

This disparity should raise concern among science educators. Nevertheless, for those grasping the potential benefits of GM technology, the PEW-AAAS result is balanced by another recent study showing that the public is not as opposed to GMOs as one might think. Conducted by researchers at North Carolina State University and the University of Minnesota, the other study found that most consumers are open-minded about GMO products when those products have health benefits, nutritionally, or otherwise. ZMapp made from GM tobacco to fight Ebola is the most famous example of a GM product to which the public already has little objections, but there are others just over the horizon.

Genetically modified plants and medical biotech

With an approach similar to that used for ZMapp, GM tobacco is also being used to develop flu vaccines, while potatoes are being used for vaccines against hepatitis B and noroviruses, another kind of hepatitis B vaccine is being developed from GM corn, and other plants are being considered to host genes for making vaccines against certain rhinoviruses and even immunodeficiency virus (HIV, the virus that causes AIDS). Additionally, chemical compounds taken from spinach are being adapted for immunization against rabies, while enzymes made by carrot cells are being used for treatment of a genetic condition called Gaucher disease. Finally, the gene for human insulin has been transferred into safflower plants to improve diabetes treatment.

We’re at the beginning of a new age, the era of GMO medicine. While it’s moving extremely rapidly and the public may be overwhelmed, the potential benefits are enormous. People will live longer and higher quality lives as a result of the new treatments, and if it’s explained right and the benefits made clear, the public will embrace it. Well, maybe except for a few ideologues at the end of the spectrum.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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You are what you don’t eat: Genetics of anorexia and bulimia

An adolescent girl either refuses to eat, obsesses with aerobic exercise or binges secretly and then intentionally, getting rid of the food either by vomiting or by abusing laxatives.

That’s the typical image that the general public has of the two eating disorders discussed most often in mainstream media: anorexia nervosa (AN) and bulimia nervosa (BN). While the public does have the basic idea, many people may not appreciate the extent to which these conditions affect one’s overall medical health, that these are recognized psychiatric disorders that are potentially deadly, and that they’re at center stage of genetics research.

Not only have advances in neurobehavioral science and genetics led to major insights as to the causes of eating disorders, but the latest research shows how AN in particular produces a cascade of physical and mental effects, including direct alternation of the person’s genes. Importantly, the amount of genetic alteration depends on how much time the individual has been suffering from AN. This makes it all the more important for health professionals, in the clinic, in schools and perhaps even in work places, to recognize people at risk, so the condition can be diagnosed and managed early.

Anorexia and bulimia: Understanding the difference

The criteria for diagnosis of AN, BN, and other eating disorders have been modified slightly as the Diagnostic and Statistical Manual (DSM- the authoritative book that mental health professionals use in diagnosis mental illness) has evolved over the years. However, the current DSM, called DSM-V, preserves a basic idea from older DSM versions, that body weight is the criterion that distinguishes between AN and BN. In both conditions, the individual has a false perception of his or her body form with an extreme obsession aimed at avoiding a weight gain, and individuals carry an elevated risk of suicide. Tactics employed to prevent weight gain in either condition may include avoiding food and over-exercising or intentionally inducing vomiting or using laxatives after binging, but if the individual is significantly below the normal body weight for his or her height, the diagnosis is AN; otherwise it is BN.

Quite often, those using the vomiting tactic are only slightly below, slightly above, or equal to normal body weight, because some food does get digested after a binge. Therefore, the public typically associates binging-vomiting with BN and food avoidance with AN, but technically it’s the weight that determines the diagnosis. Also, while both conditions typically afflict females, usually white teens, it’s important to keep in mind that approximately 10-15 percent of cases occur in males, and both conditions can affect all age groups and ethnicities.

Because starvation produces physical effects different from the effects of vomiting and laxative abuse, the medical consequences of AN and BN are very different. For instance, AN is associated with delayed growth, delayed puberty, and other complications caused by deficiencies in various nutrients. In contrast, since BM typically correlates with induced vomiting, patients often are afflicted with damage due to stomach acid passing through the esophagus, throat, and mouth. Also, the loss of stomach acid changes body pH, which can have a major impact on the heart beat, putting the individual at risk of fatal arrhythmias, plus various other organ systems are affected, along with cognition, judgement, and other mental functions.

Nature and nurture

As with most other psychiatric conditions, the genetics of eating disorders comes into play as part of what’s called the bio-psycho-social model of illness. Effects of genes on the brain, a person’s thoughts, and interactions with other people all interact in the mind in complex ways, and the illness results from that interplay. An individual thus can be genetically prone to a particular psychiatric condition, or category of conditions -they may carry a gene associated with a mood disorder, anxiety disorder, or a psychotic disorder- but this does not mean that the disease will ever manifest. Put the person under stressful social or psychological conditions, however, and they may start showing symptoms.

Looking at eating disorders, having a monozygotic (genetically identical) twin with AN or BN increases one’s likelihood of developing the same condition much more than having an heterozygotic (fraternal) twin (or other first-degree relative) increases the likelihood. The reason for this apparent hereditary association may involve genetic influences on three neurotransmitters: serotonin, norepinephrine, and dopamine. In the brains of AN and BN patients, serotonin and norepinephrine levels are abnormally low, while dopamine is either too high or not regulated correctly in certain areas of the brain.

These same three neurotransmitters are also known to be disrupted in depression and hypoactive sexual desire disorder (HSDD). Drugs used to treat depression by resetting serotonin and norepinephrine levels also help with obsessive compulsive disorder (OCD), and OCD and depression often occur in eating disorder patients. Additionally, certain disrupted levels of hormones, particularly cortisol, vasopressin, and cholecystokinin (CCK), may play an important role, and thus genetics effecting these hormones may be a factor.

In addition to genetics being among the causes of eating disorders, the genetic connection also works in the other direction. According to a new Canadian study conducted in Montreal, AN, especially when it’s long-term, actually changes how one’s genes are expressed. The phenomenon is known as epigenetics, and it works based on a chemical change called methylation. The level of methylation on a gene determines whether the gene is turned on or off, so by affecting how much various genes are methylated, one’s nutritional state can really mess with cell function throughout all body systems, including the brain.

This can make for a vicious cycle. In the words of Howard Steiger, one of the researchers on the Montreal study: “We already know that eating disorders, once established, have a tendency to become more and more entrenched over time. These findings point to physical mechanisms acting upon physiological and nervous system functions throughout the body that may underlie many of the effects of chronicity.”

In other words, AN by its nature reinforces itself, and the study suggests why, so the question now is what to do with the knew knowledge.

“All in all, [the results of the study] point to the importance of enabling people to get effective treatments as early in the disorder process as possible,” Steiger notes, but a more intriguing prospect is the idea of restoring the DNA back to normal.

If the methylation resulting from the AN can be reversed, researchers believe that the condition could improve. This would be a huge achievement, not only in connection with eating disorders, but overall in medicine, since there are a variety of other conditions that are now thought to have an epigenetic cause. A prime example is smoking. In addition to damaging the smoker directly, and bystanders with second- and third-hand smoke, smoking also causes epigenetic changes, which are passed down to future generations. If you have a parent or grandparent who smoked before you were conceived, you could be affected no matter how good your own health behaviors, but the prospect of restoring epigenetically modified DNA changes everything.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Aphrodite’s little helper: Out of the box thinking on female libido

Public discussions and advice regarding libido are hugely popular. Well-researched articles, even those meant to give quick sexual advise, all point out that there is no aphrodisiac food, but there certainly are a number of libido enhancing drugs. Viagra is the most famous of the lot, but more than 25 drugs are approved for male sexual disfunction, and some are given to women as well. By causing dilation of blood vessels within the erectile tissue, Viagra and many of the other drugs promote erectile function, and the male libido along with it.

Because the clitoris and other female genetical tissues are similarly affected by blood circulation, the same drugs have been used for women. While that can be helpful in some cases, the bulk of modern research suggests that treatment female libido issues requires thinking that is, let’s say, more out of the box.

Focussing on the brain

Scientists have understood for years that the most important sexual organ is the brain. This can be true for men as well as women, but for the most part treating the blood flow issue improves male sexual disfunction. Also, sex therapists and sexuality scientists frequently point out that men and women’s minds work differently in connection with sex, such that mental arousal often is more central to overall female arousal compared with men. This should not be surprising, as specific genetic differences between genders are known to have an impact in brain development. While the anatomic differences are minuscule, evidence suggests gender differences particularly in regions of the brain that help to process emotions. As all teachers know, in young children this plays out in terms of attention span, with girls able to focus for longer periods compared with boys of the same age. When it comes to adults and sex, something similar could be happening, leading to women needed more mental activity and time for arousal to build up.

Of course, there is plenty of overlap between the genders, just as there is overlap between boys and girls in attention span. Nevertheless, based on the idea that the causes of female sexual disfunction are more often upstairs than down, a drug called flibanserin is being promoted for what’s called hypoactive sexual desire disorder (HSDD), which is estimated to afflict roughly 1 in every 10 women.

According to Cindy Whitehead, CEO of Sprout Pharmaceuticals, the company that makes flibanserin, “Men have a number of treatment options for sexual dysfunction. Up until now, the treatment paradigm for women with sexual dysfunction has essentially been: Let’s take a drug that works in men and let’s see if it works in women.”

Flibanserin therefore constitutes a completely new approach to female sexual disfunction, and Whitehead is encouraged by results of study that Sprout conducted on 1000 women. “We increase their desire by 53 percent,” she explains. “We decrease their distress by 29 percent, and then they doubled their number of satisfying sexual events.”

In stories covered by popular media, various women who participated in the Sprout study have been quoted regarding very personal questions that they needed to answer daily on the study questionnaire.

“Every morning it would go off and I would have to answer if I had sex, if I had initiated sex, if I had turned it down, if I had lubricated, if I had orgasmed,” says study participant, Amanda Parrish. But, while personal, answering the questions helped make her aware that the drug was working. “Within a couple weeks I began to notice a dramatic difference in the way I responded.”

Shifting the balance: How flibanserin works

Flibanserin is thought to affect sexual desire by changing the balance between three neurotransmitters, which are chemicals that act as messengers between nerve cells, or neurons. The neurotransmitters norepinephrine and dopamine are called sexual excitatory factors. When present in high concentrations in the brain, these two neurotransmitters increase the desire for sex. At the same time, another neurotransmitter called serotonin decreases sexual desire when its concentration is high. Flibanserin decreases the levels of serotonin while increasing the levels of dopamine and norepinephrine, and for this reason, theoretically, it should be very effective.

Skepticism and setbacks

Despite the mechanism in the brain making sense and the results cited by Whitehead, flibanserin has yet to be approved by the US Food and Drug Administration. Since it affects sexual desire by operating in the brain, and also comes in the form of a little pink pill, Sprout has been the target of accusations of sexism. At the same time, other critics have made the case that the enthusiasm is all about profit, and not at all about gender equality. Others say it a little differently, that the drug industry is creating a need where none exists.

These critiques aside, the real reason why flibanserin has not been approved is because FDA reviewers are not yet as convinced of its effectiveness as Sprout pharmaceuticals officials are. There is also concern when it comes to women taking drugs for depression, obsessive compulsive disorder, and certain other conditions, since the drugs work by increasing serotonin levels -the opposite of what flibanserin does to serotonin levels. If depression involves low serotonin and lack of sexual desire involves high serotonin levels, this makes for a difficult clinical dilemma. Documenting results from questionnaires is one thing, but sexual satisfaction is a very subjective phenomenon, and so any public discussion is bound evoke numerous opinions and perspectives.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Preventing preterm births: Genetic cause could be in the fetus, not the mother

Mothers-to-be often go to a great deal of trouble to reduce the chance of premature delivery, if they’re deemed to be at risk. They’ll agree to progesterone treatment, despite knowing that it will make the nausea of pregnancy much worse. They’ll update their vaccinations prior to pregnancy, even though vaccine boosters are usually a low priority for most adults. They start eating better and working out, even if they’re not usually health conscious. They’ll get a dental checkup, and reduce their intake of caffeine, even though the association between caffeine and premature birth is rather wishy washy, and probably only kicks in for those drinking fairly large amounts of coffee (at least five to six cups per day).

And if they’re well informed about health, they’ll listen carefully to the advice of professionals trained in evidence-base healthcare, and not be swayed by anti-GMO and anti-vax ideologues, astrologers, or other peddlers of pseudoscience quackery. Finally, of those who smoke, many will give up the habit for the duration of the pregnancy, even if they don’t have the wherewithal to remain a nonsmoker after giving birth.

Given the complexity of pregnancy, and the association between low gestational age and negative health effects in a newborn, taking all evidence-based precautions against preterm birth certainly is a wise course of action. But it may not be enough. According to new research, the predisposition to premature birth may lay in the fetus, not the mother herself. While this does not imply that any measures taken by the mother should be futile, it may lead to a paradigm chance in how the phenomenon of premature birth is addressed clinically.

Premature birth and its consequences

A full gestational period is 40 weeks, and premature birth is defined as a birth occurring at 38 weeks gestation, or earlier, and earlier gestational age at birth is associated with worsened health consequences. Chief among such health consequences are breathing difficulties, cerebral palsy, and mental disabilities. Furthermore, premature infants have high hospitalization rates compared with infants born at or near term, and the cost to society is high: The March of Dimes estimates that $26 billion is spent each year in the United States alone, due to premature birth.

Genetic cause is in the fetus

Conducted at the University of Alabama at Birmingham, the new research links birth earlier than 34 weeks gestation to duplication of four different genes and deletion of seven different genes. A fetus possessing any of these abnormalities has a two to 11 fold increase in the risk of birth before 34 weeks gestation.

These findings really open a whole different arena for us to look into as we think about preterm birth…We’ve always thought about preterm birth as a maternal issue, but these data change the paradigm. It may be the fetus who has the underlying predisposition, not the mother.

That’s according to Joseph Biggio, director of Maternal-Fetal Medicine at , where a research team analyzed DNA samples from blood and saliva of hundreds of babies and mothers. It implies complex genetics, but also explains while, at least for some women, doing everything that’s known to prevent premature delivery often is just not enough. In the words of another premature birth expert,Edward R.B. McCabe, chief medical officer for the March of Dimes:

These findings may help explain what triggers early labor in some women even when they’ve done everything right during pregnancy and there’s no obvious cause for an early birth.

In the near future, however, the identification high risk fetuses through screening tests may allow for interventions more specific to each pregnancy compared with current appropriates. In addition to the impact specifically in the area of premature, birth, the research results can have a broader effect. According to Biggio, preterm birth is an excellent example of a complex disease. Thus, in the near future, we can expect that genetics, computational biology, and bioinformatics will be ever more central to our understanding of numerous diseases.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter. 

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Unraveling mystery of obsessive-compulsive disorder: A personal journey

I didn’t realize at the time that my fear and doubt were pathological.

I was living on the second story of a beautiful condo building, and taking two flights of stairs every day to my underground parking garage. Most mornings, I would gather my belongings and my infant daughter to head out for the day. As any reasonable person would do, I locked the door behind me. Yet, the nagging doubt would always creep in. This distrust in my senses made me question whether my eyes correctly perceived the latch in the locked position. Subservient to my mind, I was forced to verify by unlocking and locking the door not once, but five times. Then, I would schlep down two flights of stairs, lugging my precious daughter.

As I approached my car bathed in the fluorescent garage glow I’d wonder, “did I actually lock the door upstairs?” With doubt overpowering me, the fear of something dreadful happening would hold me in its grasp. Even if I was running late, I would stop in my tracks, baby carrier weighing heavily on one arm, diaper bag and purse in the other, and walk wearily back upstairs to check the lock in a sequence of five again.

This daily ordeal, among other irrational behaviors I suffered, was physically and emotionally exhausting, yet it wouldn’t subside until I realized that life didn’t need to be this way. In retrospect, I can’t believe I endured this constant state of fear.

This account is one firsthand example of bona fide Obsessive Compulsive Disorder. Further, this isn’t a fabrication, but just one of several real-life OCD behaviors that controlled the life of one of the co-authors of this article, Kavin Senapathy, for years until she sought treatment.

The general public throws around specific medical terminology either for conditions they have or their friends or family or other acquaintances have. Some of these are simply euphemisms – when someone has the ‘stomach flu’ it’s usually a form of enteritis completely unrelated to the flu, which is shorthand for the respiratory virus influenza.

Similarly, when someone seems unnaturally ordered or organized, he or she may say ‘It’s just my OCD.’ But OCD–Obsessive Compulsive Disorder–is a precise diagnostic term for a spectrum of thoughts and behaviors which can mildly affect individuals or so severely impact their lives that working or having social contact can be unbearable. Indeed, Kavin, who was recently diagnosed with the disorder, gently corrects those who use phrases like “I’m a little OCD,” or “he’s such a neat freak; it’s so OCD.” Her friends are accustomed to her jumping into conversations with anecdotes, explaining, “I actually have true OCD. Here’s the difference between your organized nature and actual OCD…” The problem is getting her to stop talking!

As its name suggests, OCD is an anxiety disorder characterized by “obsessions,” which are disturbing thoughts or images persistent in a sufferer’s mind. The sufferer performs a repetitive action or thought (the “compulsions”) to neutralize or make the obsessive thoughts disappear. Because the compulsion only alleviates the disturbing thought temporarily, this cycle of obsession-followed-by-compulsion is not easily ended. Unlike someone with non-pathological cleanliness or organization traits, a true OCD sufferer incorporates specific patterns into his behavior. Further, although being clean and organized are stereotypical OCD behaviors, many OCD sufferers aren’t overly-concerned with cleanliness.

Kavin was formally diagnosed with OCD in spring 2014. Throughout this article, she recounts details about her symptoms, diagnosis, encounters with common misconceptions and ongoing treatment. Because she is able to clearly recognize many of her symptoms as OCD behaviors (termed patient “insight,”) Kavin regularly shares her experiences with the hope of spreading awareness and reducing stigma associated with the disorder. While the success of medication and treatment can vary, she has experienced a vast improvement of her OCD with a combination of SSRI medication and Cognitive Behavioral Therapy (CBT.)

New research

The newly-revised Diagnostic and Statistical Manual-V (DSM-V), the bible for psychiatry, lists specific criteria that must be met for a diagnosis of OCD to be considered. The newest revision of the DSM has been facing the most vocal resistance of any previous edition, for reasons such as former diagnoses being eliminated or significantly revised, to new diagnostic terms being added for behaviors that many psychiatrists, psychologists, and therapists feel are a part of normal behavior.

The difficulty with the DSM criteria for disorders is that they are built around (barely to robustly) observable symptoms of behavior, and often aren’t linked with quantitative measures of physiopsychology, neuroscience, or genetics. Often, diagnoses can be worked backwards from a DSM diagnosis to familial history (a proxy for genetic inheritance, at least anecdotally) or other experiential event(s) which are taken to be evidence and ‘proof-positive’ of the life path that led to the issue. Sometimes, these correlations are tenuous and self-reinforcing (for example, if an individual is diagnosed with a psychological condition from the DSM, there’s almost no lack of life events or family connections which can be (and are) pinned to the diagnosis to give it gravity and justify where it came from).

The issue, of course, is that everyone has exposures to life events which could be similarly distressing, but not everyone would fit the same DSM condition. It’s often suggested that these differences are genetics – why do some soldiers who return home suffer from PTSD and some don’t? Why do some teens suffer adverse events from bullying and some don’t? When it comes to OCD, it was long-thought that people who came from strict families had higher instances of OCD, but this is not the case. OCD, like all psychological conditions, is neurobiological.

In retrospect, Kavin recalls having OCD symptoms since late childhood, but the severity of these symptoms skyrocketed with with the birth of her first child. Prior to becoming a mother, she didn’t realize that many of her bothersome thought patterns and behavior were attributable to OCD. Yet even with an ostensibly triggering life change, it’s difficult to determine how much of her disorder is due to genetics, stressful events, and other factors.

According to the International OCD Foundation, roughly 1 percent of adults suffer with OCD in the general population; This equates to over 10 million people in the United States alone. For something so prevalent, it seemingly must not only be genetic but also highly-conserved (passed on with relatively high frequency). Why would something potentially so devastating be still so common? It seems that there is adaptive success related to OCD – meaning that a higher proportion of respondents in certain career paths tend to respond that they have traits suggestive of OCD than the 3 percent average. These careers include doctors, lawyers, engineers, some clerical workers, and so on; Work in which a focus on precision, working memory, and error detection is absolutely critical for success. And this seems to also be one of the principal hallmarks of the disorder.

With this seemingly high level of heritability, parents who are highly self-aware, and have been proactive about seeking treatment for their OCD may worry about passing the disorder to their children. Nevertheless, while 25 percent of OCD sufferers have an immediate family member with the disorder, it is difficult to predict whether a parent will pass OCD to her offspring.

An international consortium of researchers known as the Obsessive-Compulsive Cognitions Working Group has come up with a list of six dysfunctional beliefs associated with OCD. BeyondOCD.org describes them as follows:

  1. Inflated responsibility: a belief that one has the ability to cause and/or is responsible for preventing negative outcomes;
  2. Over-importance of thoughts (also known as thought-action fusion): the belief that having a bad thought can influence the probability of the occurrence of a negative event or that having a bad thought (e.g., about doing something) is morally equivalent to actually doing it;
  3. Control of thoughts: A belief that it is both essential and possible to have total control over one’s own thoughts;
  4. Overestimation of threat: a belief that negative events are very probable and that they will be particularly bad;
  5. Perfectionism: a belief that one cannot make mistakes and that imperfection is unacceptable; and
  6. Intolerance for uncertainty: a belief that it is essential and possible to know, without a doubt, that negative events won’t happen.

Error detection

Some of the most persuasive research in the field suggests that OCD is all about ‘error detection’ gone awry. What does that mean? We are all wired to find errors – this is an adaptive and survival mechanism where if something doesn’t appear to be going right, we can use our brain’s executive center to course-correct and solve the problems which lead us to think something has gone wrong. In what seems to be a similar feature of our brains’ recognition system, we are absolutely adept at pattern-detection and recognition – so much so that we even find patterns where none really exist. Michael Shermer terms this ‘patternicity’ and it’s how our brains try to tie seemingly unrelated events together based on tenuous (and again, often nonexistent) patterns.

Similarly, the orbitofrontal cortex is likely to tell us that there is a spelling error on the restaurant menu, or that our shoe feels a little loose so perhaps the shoelace has come untied (better check). Or that the stove might have been left on (better check that, too). And you can see how subtle this cognitive hijack becomes. It is adaptive behavior (that’s kept our species alive) gone haywire. Stephen Whiteside, a psychologist at the Mayo Clinic has said that OCD activities done in ‘typical levels’ can be very helpful. “It would make sense that people with these kind of [checking, washing, organizing] traits can be highly successful.”

Religiosity

There is a field called neurotheology, which looks at which regions of the brain are responsible for thoughts about morality, religion, spirituality, and scrupulosity. The ability to ‘check’ behaviors and have ‘thoughts about thoughts’ is very complex, and is the space of metacognition. It may even be that religious thoughts and feelings, including the joy of spirituality, the anxiety of shame, and other components of the religious spectrum are related to similar brain regions responsible for the error-detection of OCD.

There could be reason to think that these thought and behavior patterns evolved in such a way as to protect the survival of our species; For example, the fact that repetitive religious behaviors gives a certain solace to practitioners could be likened to the faulty causal linkages present in superstitions. But early in our species’ development, to be wary of any causal links (however incorrect) would have provided a survival benefit. Some of these would have developed into notions of ‘If you hear rustling in the reeds, beware of predators,’ termed ‘patternicity’ by Shermer. These ideas would be selected-for genetically, even if slightly preferentially, and would also be passed-on within families as shared superstitions – some with undoubted utility. These more vigilant and cautious lineages would be preserved.

Our advanced brains’ executive function fights this every day as we factor in likelihood to our decision-making (though people are notoriously poor at estimating probabilities to make decisions). This has been such a vestigial carryover that impacts the way our society functions today that medical school even teaches students, “If you hear hoofbeats, think horses – not zebras,” to mean that even though we’re keyed-in to create causal links, half the time we do it instinctively and incorrectly, and we need to consider the relative likelihood of the decisions that we make.

OCD – Not all about hand washing: Aversion to uncertainty

It’s common to hear people refer to OCD as being related to cleanliness (routine and exaggerated hand washing, for example), and while that can absolutely be included within the symptoms, it’s not necessarily so. That’s one of the ways the brain tries to regain control over uncertainty – through routinizing activities. Closely related to ‘error-detection’ but not intuitively so, is the other hallmark of OCD: an absolute aversion to uncertainty. Along with thinking that a stove may have been left on, for example, is the unwavering and inescapable aversion to the uncertainty about not knowing – ‘need to check.’

Again, this routinized checking behavior is one of the ways to close the loop between error detection and satisfying a need to resolve uncertainty. Indeed, Kavin never experienced typical excessive hand washing or cleaning symptoms. Yet, she spent much of her precious time checking the stove, oven, alarm clock settings, and more. A few other examples of OCD that are observed:

Not just right experiences (NJREs)

finger on lockMore than 50% of patients with OCD can experience what is commonly known as “just right” symptoms. This is characterized by the nagging feeling that a specific action or thing isn’t “quite right.” For example, to alleviate obsessive thoughts of harm coming to her family, Kavin engaged in the lock-checking compulsion described previously. She would have to visually confirm the door was properly locked, and supplement the visual confirmation by touching the lock. Yet, she often doubted that the lock-touching was done “just right,” so she would repeat the ritual until this intangible “rightness” was achieved. Those with “just right” symptoms may also obsess over the placement of objects on the table, the “rightness” of words in an email, the pressing of buttons on an alarm clock, and more. With ongoing Exposure-Response Prevention (ERP) a specific type of Cognitive Behavior Therapy, Kavin’s “just right” symptoms have reduced vastly.

Counting

Some OCD sufferers repeat certain counts, or if they ‘check’, ‘wash’, or other behaviors, they may have to do it a certain number of times. There seems to be some overlap in brain regions with counting or tabulation of numbers and the resolution of uncertainty specific to OCD symptoms.

Counting was one of Kavin’s persistent compulsions. For years, she attempted to alleviate frightening thoughts with the number five. For example, when her first child was an infant, Kavin spent significant time in the middle of the night, counting the rise and fall of the baby’s chest in multiples of five. When the disturbing thought of harm coming to her family intruded on her peace of mind, Kavin felt compelled to touch a wooden or metal object five times. Often, her counting compulsions overlapped with her “just right” symptoms, with the need to repeat the counting until the act seemed done properly. With continued ERP, Kavin’s does not perform counting compulsions.

Intrusive thoughts

Really this refers to the ‘obsessive’ part of the term obsessive-compulsive disorder; Intrusive thoughts often cause different levels of anxiety and discomfort in the OCD sufferer. Ruminations can revolve around thinking those the sufferer knows could be sick or injured, that a conversation didn’t go ‘quite right’ and needs to be resolved, that an activity wasn’t done ‘the way it should have been’, and so forth. Notice that there is a great overlap with some of these thought processes and the error-detection short-circuit described above, as well as with an aversion to ‘not knowing’ (uncertainty).

Many of these themes above which trip the OCD sufferer’s error circuitry are things that could make him or her better at managing things in life – for example, the friend who calls you back to resolve a discussion you had could be better at orchestrating relationships than another friend who is unfazed by how your last contentious conversation went. Or someone who does particularly well at finding errors in spreadsheets, computer code, or editorial type. So again, these behaviors seem to be adaptive but taken to a potentially severe extreme. Kavin is often commended for her organized nature, and for always being “on top of things.” She often wonders how much of her personality is intertwined with her OCD.

Excessive reassurance seeking

Also known as ERS, this behavior is common among OCD sufferers. ERS is essentially a form of checking behavior or compulsion, wherein an OCD sufferer frequently checks in or questions family members or friends to help reassure themselves, assuage obsessive thoughts, and reduce general uncertainty. Like other OCD compulsions, the repetitive nature of ERS leads to an ongoing vicious cycle.

ERS is one reason that family members can need to play a part in an OCD sufferer’s treatment. Kavin recalls seeking reassurance incessantly from her spouse, primarily during the period of severe OCD symptoms following the birth of her child. For example, to alleviate disturbing thoughts of her spouse having a car accident, she would insist that he send a text message upon arrival to his workplace daily. Believing this was a harmless indulgence, he complied.

Similarly, Kavin would frequently ask her husband whether he remembered to turn off the stove, whether he thought their daughter was healthy, and would remind him countless times a day to “be careful.” Most of the time, he obliged and answered the questions. Offering reassurance may seem like a compassionate and loving act. After all, who doesn’t want to help alleviate loved ones’ anxiety and stress? Nevertheless, complying with ERS behaviors is enabling, and helps perpetuate the OCD cycle.

As part of treatment, Kavin’s behavioral therapist, also a psychiatrist, provided strategies to avoid seeking reassurance. Further, he advised that her husband either refrain from answering the questions, or using canned responses like, “I think you know the answer.” In addition, Kavin’s spouse was advised not to respond to obvious ERS type text messages. While this type of process can be challenging, and even cause strife within family relationships, she believes that a combination of good communication and an understanding spouse helped tremendously. While her ERS behaviors have reduced drastically, she still finds herself slipping on occasion, especially during stressful periods. Indeed, because there is no cure for OCD, sufferers must use tools garnered in therapy to keep symptoms manageable.

Severe OCD

Here are a few brief case example of actual OCD patients’ behaviors:

  • A new book by David Adam about his battle with OCD and inescapable fears of disease and the compulsions that it drove.
  • Jacob Billsborough, an artist in Ireland with OCD reports “I plan my whole life around my OCD tendencies and sometimes when I’m not in the mood for that anxiety I just avoid going outside my apartment. It can be exhausting.” And perhaps the 2-3% rate of OCD reported in Ireland isn’t a real anomaly, but just better diagnosis or diagnostic sensitivity there compared with elsewhere.
  • Similar to Kavin, this mother in the UK felt compelled to ‘check’ her daughter’s breathing 15 times per hour to make sure she was still healthy and living.
  • A young male whose OCD went undiagnosed even within his own home – he was not eating, and would sit in a specific chair because it was “safe.” When he went off to college, he wouldn’t go into certain buildings on his college campus.
  • And of course, Howard Hughes, for whom the Howard Hughes Medical Institute is named was also famously-afflicted with OCD – so much so that in his last years of life he was so disturbed by his psyche that he thought any social contact – at all – would contaminate or infect him, so he lived in a hotel room with several doctors onhand and would see no visitors. When Hughes and his wife moved to Las Vegas, he reserved the top two floors of the Desert Inn hotel. He then refused to leave because of his thought patterns, and so bought the hotel for twice its valuation price. He began communicating with his wife by notes rather than face-to-face because of his phobias (likely of contamination). He even “wrote a staff manual on how to open a can of peaches–including directions for removing the label, scrubbing the can down until it was bare metal, washing it again and pouring the contents into a bowl without touching the can to the bowl.” For four months he wouldn’t leave his room and would urinate in jars to avoid the idea of having to leave. Again, it seems from the outside and objectively to be so out-of-the-ordinary that ‘you’d never do that’ – but for someone with the disorder, the overwhelming sense of dread to not think or act in certain ways is absolutely intolerable.
  • Some spectacularly famous cases are here.

Genetic basis

There is some evidence of heritability as the occurrence of OCD within families is slightly higher than the average reported in the population. But again, all of these statistics assume the reporting is (fairly) accurate, which often isn’t the case – especially with mental conditions, where stigma is still de rigeuer. Genetics appear to only be partly responsible. The International OCD Foundation suggests that “Perhaps an illness or even ordinary life stresses that may induce the activity of genes associated with the symptoms of OCD,” elaborating a tantalizing link with epigenetics.

PANDAS

A specific type of hypothesized post-infection class of OCD-like symptoms, it stands for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections. It has been observed in a number of cases, and in fact, the disorder was characterized by the clinical appearance of symptoms in children following infection with strep. The jury is still out on the prevalence and robustness of the scientific data, but there are well-documented cases of symptomology looking a lot like severe OCD with very sudden onset. The suggested mechanism here is that antibodies which target certain fragments of the streptococcus bacterial antigen also cause damage to certain brain regions. Some rapid remission has been reported in some children, spontaneously resolving; and other cases have seemed to persist.

Drug therapies

Some drugs in the selective serotonin reuptake inhibitor (SSRI) class have been approved for use in treating OCD, typically at higher doses at which the drugs are used for generalized anxiety disorder (GAD), major depressive disorder (MDD), and other conditions they are approved to treat. There are currently no good workable theories why this should be the case, and it’s likely that OCD sufferers can experience some relief from their symptoms on SSRIs as a halo effect – that the drug isn’t directly targeting all the neurotransmitters or brain regions which are involved, but in a broad way they’re helping to align some brain functions.

There are some new pharmaceutical treatments currently being investigated for OCD to more specifically target some hypothesized pathways through which OCD is thought to function.

Cognitive therapy

There is good reason to suspect that psychotherapy is effective for OCD sufferers, and has a similar magnitude of effect as the drug treatments. The best outcomes seem to be with an adjunct combination of drug therapy along with psychotherapy. There are several different methods to treat OCD in ‘talk therapy’, including cognitive behavioral therapy (CBT), and many involve some form of ‘exposure and response prevention’ (ERP) where the uncomfortable thoughts or feelings (even physical symptoms) are elicited to occur, and then the therapist coaches the patient to prevent him or herself from engaging in the compulsive actions or ruminative thoughts that have been learned to defuse the anxious feelings.

A combination of sertraline (an SSRI) and CBT have helped Kavin alleviate her OCD symptoms considerably. In a systematic manner characteristic of proper CBT, her therapist helped her resist performing compulsive behaviors. She is thankful to have found such an effective therapist, and credits his work for improving her quality of life. Yet not all OCD sufferers are as fortunate as Kavin; there are often roadblocks to treatment success. Indeed, OCD sufferers sometimes don’t recognize that their behaviors are irrational, or avoid seeking treatment due to stigma or fear. Additionally, while CBT and certain medications are the only evidence-based treatments for OCD, sufferers often end up participating in inappropriate, non science-based treatments like hypnotherapy, homeopathy, and dietary changes. This is why it’s imperative to find a reputable service-provider with experience treating OCD sufferers.

Because we are a combination of our genetics and our life experiences, we each fall into an overall range of behaviors (and even then, we have a range of behaviors in different circumstances). Why we approach circumstances the way we do is partly mediated by our genetics, and certain aspects of the human condition like OCD appear to be a part of humanity because when it’s not so severe that is disruptive, it has allowed us to perhaps be more fastidious, detect more errors, and strive for more certain outcomes than if those genetic combinations never existed.

Ben Locwin, PhD, MS, MBA is a Contributor to the Genetic Literacy Project and is an author of a wide variety of scientific articles for books and magazines. He is also a researcher and consultant for a variety of industries including behavioral and psychological, pharmaceutical, aerospace, food and nutrition, and academic. Follow him at @BenLocwin.

Kavin Senapathy is a contributor at Genetic Literacy Project and other sites. She works for a genomics and bioinformatics R&D in Madison, WI. Her interests span the human and agricultural realms. Opinions expressed are her own and do not reflect her employer. Follow Kavin on her science advocacy Facebook page, and Twitter @ksenapathy

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Is Nature safer, healthier in medicine and food? Deadly take on controversial topic

It’s called the “naturalist fallacy”. Not “naturalist” in the philosophical sense, holding to the idea central to science that all phenomena have a natural basis, but naturalist in the sense of fearing technology. Believing that seeds or foods developed partly by laboratory scientists are “bad”, while all things found in nature are good, spurs millions of people to fear what they eat and screen what they buy at the supermarket.

Seeking to avoid GMOs and other “unnatural” ingredients, consumers spend more money on “organic” and GMO-free products marketed aggressively by a growing “health food” industry that critical writers have appropriately started to call “big organic“.

Consumers have become convinced–and marketers play on these beliefs–that “organic” is synonymous with “safer” or “healthier” or “more sustainable” although study after study has shown that’s more perception than reality. But, far worse than leading people into buying products they don’t need, the nature-is-best worldview in some cases can have deadly consequences.

Big organic: Hard to avoid for everyone, potentially deadly to those who seek it out

Even many of us, while unswayed by big organic marketing, often find ourselves forced sometimes to buy certain products that are labeled GMO-free, organic, and whatnot. Why? Because, some products are healthy for reasons unrelated to the organic or GMO status of the product. There are good, scientifically valid reasons for avoiding trans fats, for instance, and using olive oil instead of partially hydrogenated vegetable oil, but you’ll be hard pressed trying to find a spread product made without partially hydrogenated oil that doesn’t ALSO have a GMO-free label on it. Or, if you shop at a store that carries both conventional and organic produce, sometimes you buy organic, because they’re out of what you wanted in conventional, and you don’t feel like making another stop.

So, due to their beliefs in naturalism, many consumers are ripped off, and many nonbelievers end up paying the price too. That’s a problem, a pretty significant problem, but the problem goes beyond money. How far? Pretty far when we look into the realm of alternative medicine, which is where nature-is-best beliefs often take people. Looking at vaccine denial, for instance, we’re already seeing consequences in the form of the recent measles outbreak, and given the number of antivax families in certain geographic areas the problem is poised to get worse. At the same time, looking at cancer treatment and prevention, people are literally dying, because of their beliefs that all medicine must be “natural”.

Twisted understanding of health and other cancer risks

Just as the interaction of genes and the environment is complicated, so is the public’s understanding of chemistry and the risk for cancer. A recent survey by the American Institute for Cancer Research (AICR) has revealed that the main factor influencing Americans’ beliefs about cancer is fear. On one hand, Americans in 2015 understand the risk of certain products, tobacco in particular. After six decades of hearing health authorities say “we’re absolutely sure that smoking is bad..don’t do it”, 94 percent of Americans correctly identify smoking as a major cancer risk. They also mostly (84 percent) understand that exposure to sunlight causes skin cancer. At the same time, however, they’re far off when it comes to food products. Only 43 percent are aware that alcohol increases the risk of cancers of the breast, mouth, and esophagus, while only 35 percent know that red meat diets have been linked clearly to colon cancer. At the same time, 74 percent are worried about pesticide residues, 62 percent about additives, 56 percent about GMOs, and 54 about livestock hormones—all issues for which there is no definitive evidence of a harmful effect.

As for the reason for the misdirected concerns, according to Alice Bender, AICR’s associated director for nutrition, it comes from the perception of being able to control the cancer risk by controlling which food products one buys.

“The media confuse people with daily articles focused  on individual studies, rather than the scientific consensus,” Bender said. By conducting this type of survey, however, AICR hopes to improve the public’s understanding of the issues, although “these latest numbers are chilling.”

Plethora of misinformation

While the media end up confusing people by highlighting individual studies for the sake of having a story, there also are forces actively at work in spreading misinformation. To this end, one of the biggest culprits is the American Academy of Environmental Medicine (AAEM). Its name makes it appear to be an impressive group of science minded medical practitioners. But strongly affected by what psychologists call a confirmation bias–citing as “proof” on one claim or another one-off studies and data while avoiding data and studies that show the opposite– AAEM is more a group of ideologues. The respected online site Quackwatch lists it as a questionable organization, primarily because it rejects one of the fundamental precepts of modern science and medicine–the primacy of empirical evidence and the reproducibility of data.

AAEM has a loud voice, however, because its membership includes MDs, rather than just naturalistic physicians (NDs) and other alternative health practitioners. AAEM doctors make regular appearances in the media, and are favorites of Dr. Oz. This opens the door for anti-GMO activists, such as Jeffrey Smith, the Maharishi cult member who has become a spokesperson for fringe anti-biotech activists, to post article after article with authoritative sounding titles, such as “Doctors Warn: Avoid Genetically Modified Food“.

[T]he American Academy of Environmental Medicine (AAEM) called on “Physicians to educate their patients, the medical community, and the public to avoid GM (genetically modified) foods when possible and provide educational materials concerning GM foods and health risks.” They called for a moratorium on GM foods, long-term independent studies, and labeling. AAEM’s position paper stated, “Several animal studies indicate serious health risks associated with GM food,” including infertility, immune problems, accelerated aging, insulin regulation, and changes in major organs and the gastrointestinal system. They conclude, “There is more than a casual association between GM foods and adverse health effects. There is causation,” as defined by recognized scientific criteria. “The strength of association and consistency between GM foods and disease is confirmed in several animal studies.”

Will the public move from fear to science?

AAEM is not recognized by the American Board of Medical Specialties, and its physician members amount to just a tiny percentage of all physicians. Whether in the general public, or among doctors, confusion about GM food is fueled by a lack of understanding of genetics. However, a recent study conducted at Boston University Medical College reveals that instruction in, and understanding of, genetics in medical school curricula has improved sharply over the last few years, raising hope that unwarranted fears of genetic technology and genetic rejection-ism may fade.

Still, AAEM’s supporters are able to quote doctors, so the organization has been influential, not only in the area of GMOs, but also on other fringy “science debates”, such as the alleged dangers of vaccines. AAEM has been protesting the presence of small amounts of mercury (thimerosal) in certain vaccines. It is not organic mercury (which is far more dangerous than inorganic mercury) and while the American Academy of Pediatrics (AAP) once supported a ban on thimerosal-containing vaccines, AAP no longer supports such a ban, as the science shows it is not a danger–while the presence of unvaccinated people around the planet certainly is extremely dangerous.

Dying for one’s beliefs

Cancer patients who use alternative medicine have shorter survival compared with those who don’t, although it is not clear why. It’s possible that being more sick leads to more desperate acts, in which case the alternative therapy itself would not be the direct cause. On the other hand, patients may use alternative medicine products that actively interfere with their anti-cancer treatments. Finally, believing in alternative treatments, some patients refuse treatments recommended by oncologists, shortening their survival time, and often also the quality of life, because they’re getting only ineffective treatment instead of treatment that can help.

The latter scenario can manifest most dramatically when a patient is diagnosed early with a type of cancer that is unquestionably treatable and curable with state of the art medicine. While we have a long way to go in the war on cancer, the last few decades have seen dramatic improvement in survival for certain cancers. The most common type of childhood malignancy, for instance, acute lymphoblastic leukemia (ALL) now has a cure rate of approximately 90 percent in children under 15 years of age, and 75 percent for older teens. The success rate in curing Hodgkin lymphoma, various types of bone cancer, and many types of breast cancer has also gone way up in the last several decades, and when malignant melanoma of the skin is detected in an early stage it too can be cured. The survival contrasts sharply with the situation in the early 20th century, when home remedies -naturalistic medicine- were the only option and the patients simply all died. By rejecting available modern medicine, followers of alternative medicine are effectively going back 100 years, but many do it anyway.

To use an example of how this works that’s extreme, but sadly not limited to just one case, one medical blogger recounts the story of a patient who was found with imaging and biopsy to have a tiny, malignant breast tumor. Based on the staging of the tumor and the pathology, surgical removal of the tumor followed by what’s called adjuvant chemotherapy would have given her a 93 percent chance of surviving. But she refused, seeking in alternative treatment from a naturalist practitioner instead. Regardless of what sort of alternative treatment she ended up getting, refusing the surgery pretty much modified her chance of survival to something like zero percent.

So, the effect that heath misinformation campaigns can have on people really does go way beyond the supermarket.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Bob Simon’s final 60 Minutes: Grinding progress of ZMAPP Ebola GMO drug

CBS aired Bob Simon’s last piece for 60 Minutes on Sunday night on a cure for Ebola: a drug made from genetically modified tobacco. Some anti-GMO activists have attacked this innovative drug as dangerous solely because it has been genetically engineered.

Simon died last week in a tragic car accident. His death, and his funeral Tuesday, February 18, pay tribute to his 47-year career. In his last report, Simon highlighted the under-supported research behind the ZMAPP drug. He focused on the length of time it currently takes to produce the drug as well as lack of U.S. government support over the last 12 years of the drug’s development from discovery to trials.


Click here for the longer 60 Minutes tribute to the late Bob Simon
 (13:52)

So far there have been 22,894 infections, with 9,177 deaths, from the Ebola virus, primarily in Liberia, Sierra Leone and Guinea, yet the drug is only now about to begin clinical trials in humans in Liberia. Infections in Liberia have been reduced dramatically with only three new cases recently.

Starting last August, the ZMAPP drug has been used to treat nine patients, first with American medical missionary doctor Kent Brantly, who recovered.

Unbeknownst to Brantly, who contracted the virus doing medical work in Liberia, infectious disease researcher Gary Kobinger, of the Public Health Agency of Canada, had produced an Ebola drug called ZMAPP. But so far, Kobinger had only tested it successfully on monkeys.

Brantly received the drug and “after two or three hours, I was actually able to get up and walk to the bathroom,” he said.

Though it’s not yet clear that the drug is responsible, as not all have survived the treatment. Brantly also had a blood transfusion and first-rate medical care. This is why trials are needed.

MAPP is produced by a small San Diego-based biotech company called Mapp Biopharmaceutical who began the research 12 years ago, reported Simon. The only investor the company could get was the U.S. government, who after 9/11 ramped up funding for potentially threatening diseases that could be weaponized, including Ebola.

The scientists use a common tobacco bacteria, genetically engineered with different components of the Ebola virus, to infect a large number of tobacco plants.The infection spurs the plants to make antibodies to the virus, including the pieces of viral Ebola DNA. Though tobacco has the stigma of bad health. CEO Hugh Hadyon of Kentucky Bioprocessing, which produces the drug in greenhouses said that it is clearly an irony but that the plant can be used for good. Tobacco is a good organism to produce genetically engineered drugs because its relatively easy to infect the plants with altered bacteria, the plants’ immune systems react well.

Meanwhile, anti-GMO websites decried the use of a genetically modified crop to produce a drug, spreading fears that it will cause cancer or elephantiasis. Here is just one of many blogs, from the quack website NaturalNews:

At no point have GM monoclonal antibodies ever been successful in human trials, as they are, by their very nature, incompatible with the human immune system. Using synthetic proteins that exist nowhere in nature to trigger some kind of positive immune response by the body is human pride and arrogance at its pinnacle — a loathsome attempt at playing God that appears to always result in catastrophic biological damage.

The blog cited alleged failed clinical trials in Europe of drugs developed using similar technology. Yet, so far, one drug treatment generated by GM plants has received approval by the FDA—Elelyso uses a novel vector with carrot cells to treat Gaucher disease, indicating that successful biopharming solutions are possible.

In reality, there is no need to think of a drug produced from GM tobacco as any different from GM crops. Distilled down to the basics, the technologies are the same. GM crops have been found to be safe by scientific consensus. GM pharma, then, doesn’t make as scary a picture as activists paint.

Interestingly, even the British organization GM Watch, which is a watchdog group skeptical of GMOs, says that they have no problem with the medical use of GMOs, a contradiction with their stance on GM crops. So the anti-GMOers are split on this one.

GM Watch clarified that they are primarily opposed to GM pharma products that are farmed in the open as opposed to contained settings. However, Kentucky Bioprocessing grows its tobacco in greenhouses, making the group’s concerns moot.

“We have no problem with the medical use of GM technology as long as products are developed in properly contained settings and tested and used responsibly,” a statement says. “We applaud the developer company for observing that precaution, which should be a regulatory requirement for all GM pharma crops.”

But Simon reports the long process to produce ZMAPP, which is one factor that has hindered the progress of the treatment:

The tobacco plants first have to be grown for 24 days. Then they are immersed in a liquid containing a gene that tells them to make special antibodies which tells them to make antibodies which help the immune system fight viruses, in this case Ebola. As the plants grow the p copy those antibodies over and over again. …The leaves are then ground up into a liquid, which looks like a juice you buy at a health food store. Since Zmapp is made up of three different antibodies the process has to be repeated three times using 6,000 pounds of different tobacco plants.

The process takes six weeks and yields only enough for dozens of doses.

Simon then pushes to find out why so little of the drug existed when the epidemic broke out last year. He visits the Biomedical Advanced Research and Development Authority under the U.S. Department of Health and Human Services, the bureaucracy created to ready the nation for outbreaks like Ebola.

While BARDA has government manufacturing center intended to make drugs and vaccines quickly, they haven’t produced a single dose of ZMAPP.

Simon presses Robert Kadlec, President Bush’s point-man on biodefense, on why the U.S. isn’t ready for a number of biological threats initially targeted after 9/11. “In terms of the accumulation of your responses, it doesn’t sound very good does it?” Simon asked.

Kadlec responded, “It’s not very promising and again I think the Ebola crisis gives the opportunity to highlight… that we can do better on this.”

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Coming age of Xenotransplantation: Would you accept an organ from a pig to save your life?

Would you accept an organ transplant from a pig, cow, baboon or a chimpanzee to save your child’s life, or your own?

More than 123,000 people in the United States currently need an organ transplant, and about 21 people die each day waiting for one, according to the Department of Health and Human Service, but less than 30,000 actually receive a transplant. U.S. government information on transplantation reports that an average of 79 people receive organ transplants every day, but that 18 people die each day because of a shortage of organs. In other words, there is a severe organ shortage and many of the people on waiting lists are under age 50.js7ih8cxrsl1ufuo91dm

A shortage of organs means a shortage of organs from human donors, and in the years to come, non-human organs may be used to fill the gap. Known as xenotransplantation, the idea of grafting organs from non-human animals to human patients is not new, but historically, it’s been essentially a surgical research tool.

As early as 1963, 13 patients were xenotransplanted with chimpanzee kidneys, but their survival was measured only in months. A year later, the first heart xenotransplant was attempted, also with a chimpanzee donor. Since then, fewer than ten such procedures have been carried out, and the survival has been horrible. The longest survivor of cardiac xenotransplantation was “baby Fae”; she lived 21 days after receiving a baboon heart at Loma Linda Children’s Hospital in 1984. But the purpose of the procedures was not actually to save the patients lives.

“In those days, the advice to parents was to leave the baby here to die or take it home to die,” noted surgeon Leonard Baily, 25 years after he performed the baby Fae transplant, referring to a handful of congenital heart conditions that were incurable prior to the age of pediatric heart transplantation.

Essentially, the procedures like that performed on baby Fae were carried out to give the surgeons practice, and to this end they were extremely successful. The rehearsals with non-human hearts soon allowed Baily and other pediatric heart surgeons to perform human-to human heart transplants. This has saved thousands of lives since the mid 1980s and similar histories have played out with transplants of hearts in adult patients.

It’s also been the story of transplantation of other organs, such as liver. During the 1990s, baboon-to-human liver transplants were conducted at the University of Pittsburgh and this helped advance procedure that subsequently allowed liver transplants from human to human. The surgical technique is not the obstacle anymore, nor is the medical support and organ preservation that makes the transplantation possible. Instead, the limiting factor today is the organ supply, and that’s where xenotransplantation may have a new role.

In contrast to full organs, transplantation of tissues from non-human animals to human patients has a long track record of clinical success. Documentation of people being treated with non-human tissue goes back as early as 1682, when a piece of dog skull was apparently transplanted to the skull of a Russian nobleman. Over the last few decades, xenotransplantation of tissues and pieces of organs has become routine in the clinic. Many people, for example, have received replacement valves from the hearts of pigs and cows. It is completely routine now, and the decision between an animal versus a mechanical valve always comes down to tradeoff between the various clinical pluses and minuses of each.

Expanding from tissues to organs

As the technology has advanced, researchers have begun developing a technique that could get more kidneys to people who need transplants. But the method is controversial: It is now feasible to remove a kidney from an aborted human fetus and implant the organ into a rat, where the kidney can grow to a larger size. It’s possible that further work could find a way to grow kidneys large enough that they could be transplanted into a person, the researchers said, although much more research is needed to determine whether this could be done.

“Our long-term goal is to grow human organs in animals, to end the human donor shortage,” said study co-author Eugene Gu, a medical student at Duke University and the founder and CEO of Ganogen, Inc., a biotech company in Redwood City, California.kidney-growth-620w

Previously, other scientists had attempted to grow immature human kidneys in the abdomens of mice, but the new research “is definitely the first time an actual whole human organ has been grown in an animal, and has sustained the life of that animal,” said Gu.

The principal obstacle to organ xenotransplantation has been rejection of the donor organ by the recipient’s immune system. Based on complex interactions of various genes, cells of humans, pigs, cows, apes, and other animals all express certain molecules on the cell surface. Seeing those surface molecules as “foreign”, the immune system mounts a massive attack. This is a major issue even for human-to-human organ transplants, but using donor-recipient genetic matching and also immunosuppressive drugs, transplant medicine has been able to overcome the problem, although the risk is always present.

With transplantation between species, however, the genetic mismatch between the donated organ and the recipient’s immune system is bigger. Thus, even when a xenograft organ is the correct size anatomically –as a pig heart is to replace a human heart, for instance– the rejection potential is a showstopper. Another concern has been the possibility of viruses transmitted from the donor animal to the human recipient, but this type of infection has not shown up in all the years of pig and cow heart valve transplantation to humans.

Due to advances in biotechnology, genetics, and immunology, xeno-organ transplantation now beckons as a viable, long-term solution to the organ shortage. One particular xenotransplant area that’s advancing is for the treatment of type 1 diabetes. This is the type of diabetes in which an individual is unable to produce insulin from special cells in the pancreas known as islet beta cells, and it tends to manifest in young patients.

While only the tissue containing islet beta cells is needed, not the entire pancreas, to harvest enough islet beta cells to cure a type 1 diabetic, actually more than a full human pancreas is needed (generally, somewhere between 1 and 2 pancreases worth of islet beta cells). However, the state of technology for harvesting the cells from a pig pancreas has advanced such that recent analysis shows that it would be cost effective, particularly for young diabetics. Of course, it would also be better for them, as they’d be cured and no longer would have to depend on constant insulin injections to stay alive.

Toward the goal of transplanting entire organs into humans from other species, a very recent study reports pig hearts remaining viable for more than a year after transplantation into baboons. Genetically, the difference between pigs and baboons is no greater than the difference between pigs and humans. Consequently, this is a major achievement that could pave the way to pig-to-human heart transplants –not as a research tactic, nor even for stalling in a patient awaiting a human heart, but to provide the patient a heart for the long-term.

Societal issues

As for how people feel about xenotransplanation, a poll conducted at the turn of the century found 71 percent of the public saying that they would consider xenotransplantation for a family member, if no human organ match were available. But there is also the animal rights objection. While use of such parts certainly can be troubling to many people from the standpoint of animal rights, popular media sometimes play up more of a yuk factor, or seek out controversy – for instance suggesting that adherents to dietary rules of organized religion –prohibitions against eating beef or pork– would refuse pig or cow tissue or organs.

In western societies, the current drift away from organized religion in younger generations could soon render these types of discussions moot. But for the time being, religious prohibitions still influence a great number of people, and consequently public policy. Nevertheless, a check of the blogosphere reveals that generally people who won’t eat pork (kosher Jews and halal Muslims) are no more hesitant about putting pig tissue into their body for medical purposes than they are about wearing leather shoes. Hindus are talking about the issue too. Despite prohibitions against eating animals, there is no general Hindu consensus saying that non-human tissues and organs shouldn’t be transplanted to humans. As one Indian writer put it:

The issue of animal sacrifice for the sourcing of transplant organs is linked to the controversy regarding the use of animals in medicine and medical research in general.

So, in the end, the choice will come down to personal preference. Just as people choose not to eat meat, people will refuse hearts, livers, and kidneys from pigs or cows. As for whether society as a whole will move against xenotransplantation for ethical reasons, it seems unlikely. At least, as for as long as society continues to breed and raise animals as food in numbers that are sure to dwarf the number of animals bred for their organs.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Was Beethoven’s music inspired by genetic mutations for arrhythmia?

Many people believe Beethoven’s music came from his heart. Now there is scientific research that that may be literally true.

A team of researchers–a medical historian, cardiologist and musicologist from various universities–are proposing that Beethoven’s masterful compositions were influenced by his cardiac arrhythmia. Howell says the final movement in Beethoven’s Cavatina, Opus 130, a string quartet in b flat minor, gives some clues.

“That particular section and some of the other sections make us think that perhaps he was experiencing some kind of shortness of breath, that he wasn’t able to breathe because his heart was malfunctioning,” said Dr. Joel Howell is a professor of internal medicine at the University of Michigan School of Medicine, one of the team members.

The team further inferred that it’s likely Beethoven would be extra aware of his heartbeat, because he was deaf. Beethoven also offered this clue: “He talks about himself as a piece of music being ‘heavy of heart,’” said Howell.

Beethoven was not alone in his battle with arrhythmia, which scientists believe is inherited. About 5 percent of the U.S. population, some 14 million people, have arrhythmias. And sudden arrhythmic death syndrome (SADS) is one of the scariest medical phenomena that can run in a family, because it strikes unexpectedly, often against young people. Of roughly 350,000 people who die unexpectedly and suddenly due to problems in the heart, nearly 4,000 are under age 35, some of them teens or even children.

Looking at this from another angle, among high school athletes in the United States, 1 in 200,000 will die suddenly, usually with no prior symptoms. That’s because SADS typically is triggered by exertion, yet results from defects present since embryonic life.

When an autopsy can reveal no abnormality that could have led to the death, SADS is recorded, but rather than being a single, specific condition, it’s something that can result from any of several inherited, genetic abnormalities. Rather than affecting the anatomy of the heart, the abnormal genes affect what are called ion channels in the membranes surrounding the heart’s muscle cells, known as cardiomyocytes. Functioning as tiny doors, the ion channels control the movement of potassium, sodium, and calcium ions between the cell interior and the bloodstream.

Complex genetics

A large fraction of SADS cases result from a condition called long QT syndrome (LQTS). In most people with LQTS, the inherited abnormality involves two types of potassium channel. However, 14 different inherited forms of LQTS have been indentified, each with its own gene (some forms even with two genes). The genes have been located to specific regions of specific chromosomes, and different genetic forms of LQTS can involve channels for calcium and sodium in addition to the forms affecting potassium channels. This has major implications in terms of the needed treatments, even though they all forms of LQTS increase a person’s risk to the same, potentially fatal condition: cardiac arrhythmia.

This complexity has raised a major practical question, namely what to do with people whose ancestors or other relatives are known to have died suddenly at a young age. Does everybody with a genetic mutation for LQTS, or for another condition associated with SADS, actually carry a high risk of dying unexpectedly such that they require treatment? Until recently, the answer was a mystery, which was a major problem, since various treatments themselves may also carry risk. But, thanks to a new computational technique called a virtual human heart, cardiologists are beginning to get some answers. As it has turned out with so many genetic phenomena, here too the same mutation does not always affect different people with the same severity.

Arrhythmia: Heart beating out of synch

A normal heart pumps blood efficiently, because all of the cardiomyocytes beat in unison. The term arrhythmia refers to an abnormal heartbeat, but there are many different types of arrhythmia, and many types are not dangerous. However, people with LQTS genes are prone specifically to types of arrhythmia that can deteriorate into a state called ventricular fibrillation in which the beating of cardiomyocytes is entirely unsynchronized, so no blood is pumped. This is rapidly fatal, unless the person is treated immediately with cardioversion (electrical stimulation to the heart) and various drugs. People at high risk for fatal arrhythmias can be implanted with automatic cardioversion devices, but as noted earlier there has always been uncertainly about whether everybody with a gene for an SADS causing condition is really at risk.

Virtual hearts beating down under

A virtual heart is a simulation of hearts beating on a super computer. Using such powerful computational approaches, researchers at Australia’s Victor Change Cardiac Research Institute in Sydney, have been able to demonstrate that not everyone carrying a gene for LQTS needs preventive treatment, but they do all need to be checked with electrocardiography (EKG). The term “long QT” in the LQTS acronym actually refers to a very specific phenomenon that’s easily recognized on EKG. In electrocardiography, the letters P-Q-R-S-T stand for different parts of an electrical wave that shows up in a certain shape, due to electrical activity moving through the heart muscle.

On first seeing an EKG readout, the first thing a physician does is check the distances between the various peaks and valleys, which provides not only the heart rate, but also clues about possible problems. While the segment known as the QRS represents the electrical activity that causes the ventricles to beat, the “T Wave” (which follows the S) represents the recovery of the ventricles, which allows them to beat the next time. If more than a certain amount of time passes between the Q wave and the T wave, certain regions of the heart muscle will not be ready on time for the next contraction, and this is what triggers the dangerous arrhythmia. There also is a telltale notch on the T wave that acts as a clue.

While this physiology has been understood for decades, the Australian supercomputing study has linked the physiology to the underlying genetics.

“For the past 30 years, that notched t-wave has been in the diagnostic criteria but nobody’s known what’s caused it,” says Adam Hill, leader of the study. “We show what causes it.”

This finding, in turn, has some very practical implications. If you have a gene for LQTS, you’re in danger only if there actually is a prolonged QT interval. In other words, suppose that there are two siblings, both children of a parent who dies suddenly at a young age, and suppose that both have an LQTS gene, yet only one of them actually has a prolonged QT interval. Only the latter one needs treatment. On the other hand, it also means that the genetic screening is vital, since it shows who must be checked by EKG. But from a genetic standpoint, it also means the risk comes from the gene plus something else. In other words, either the genes react in unknown ways with the environment, or there are some unknown other genes involved. Either way, the situation is very complex –just like every other new discovery in genetics to date.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Would you–should you–clone your pet?

For $150,000, you could buy a ticket for a suborbital tourist space flight, pay off your student loans, possibly even buy a house, or immunize thousands of children in Somalia against polio, but how about cloning your pet? That’s what Edgar and Nina Otto did back in 2009. After keeping the DNA of their deceased Labrador, Sir Lancelot, in frozen storage for a year while the technology developed, the Florida couple traveled to Sooam Biotech in South Korea, where the DNA was injected into a host egg to create an embryo genetically identical to Lancelot.

Dubbed Lancelot Encore, the puppy became the first commercially cloned dog, but not the first commercially cloned pet; that honor goes to a cat, Little Nicky, who was created for a mere $50,000.

More recently, others have followed in the Otto’s footsteps, and the price of the dog cloning procedure at Sooam is now down to $100,000. And there’s competition from another South Korean company, RNL Bio, leading to what Time Magazine has dubbed “South Korea’s Pet Clone Wars“.

Harsh criticism

Scanning the reader comments on various pet cloning articles in popular media, most people appear to be negative. Some are more polite, others more harsh, but many make the point that, of course, the clone is a completely new animal and not a replica of the deceased pet. In the words of cloning expert, Robert Lanza, chief scientific officer at Advanced Cell Technology,

Anyone who thinks they might be able to get Spot or Fluffy back is mistaken. Cloned animals have distinct personalities, just like identical twins.

Beyond criticism of the clients who get their pets clone, it should be no surprise that the budding pet cloning industry is getting harsh criticism from animal rights groups, along with pretty much anyone concerned with social justice. People are putting so much money and effort into reproducing essentially a different animal that merely resembles somebody’s deceased pet when the money could be used to help thousands of homeless dogs and cats, or for that matter to help human society, but this is not the only ethical issue.

While Sooam has cloned hundreds of animals and provided many families what they’ve requested, including Lancelot Encore who has since grown up to father many of his own puppies, many clones do not survive on account of medical abnormalities. According to Lanza,

Anyone who wants to have their pet cloned should ask themselves if they are willing to have one or two defective copies of “Fluffy” or “Spot” put down in order to get their pet back.

Also, even when several healthy clones are produced in one litter, the client may want just one of them.

Beyond pet duplication

Sooam is now partnering with a Chinese company, BoyaLife, to expand into China where the goal is not merely to provide private individuals with duplicates of their deceased pets for emotional reasons. Instead, the idea is to clone very special sniffer dogs. Employed for police work and bomb sniffing, or for sniffing out cancer and other medical conditions, especially talented sniffer are not so easily bred. Moreover, BoyaLife is not thinking only about dogs and cats.

“Dogs are the entry point…We want to do all this not just for profit, but also for history.” says Dr. Xu Xiao-chun, BoyaLife’s CEO who emphasizes that the company will be expanding to cow cloning to increase beef production. That sounds practical, but along with that he also is considering something a little more exotic side, but also perfectly appropriate for China: cloning a giant panda.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Wine as magic elixir? The debate thickens

Should you imbibe or abstain? Wine and other forms of alcohol are good. Or not?

Diametrically-opposed viewpoints about its potential benefits are common in the popular press. Not long ago that it was believed that the only good (beneficial) alcohol was that from wine because of the various flavonoids. Then it was found in population-level data analysis that consumption of any type of alcohol at a low level was associated with improved health and increased HDL cholesterol. It became less-so about the magic in the wine and more about the solvent alcohol.

There is no question that the consumption of wine has soared in the United States in recent decades, although it’s not at all clear (or persuasive) that its alleged health benefits have played a role in this trend.U.S.-wine

The Dietary Guidelines for Americans, established a decade ago, state, “The lowest all-cause mortality occurs at an intake of one to two drinks per day. The lowest coronary heart disease mortality also occurs at an intake of one to two drinks per day.”

But there are twists to this finding. Consumption is considered ‘excessive’ if it’s over 7 alcoholic drinks per week for women or over 14 per week for men. And as the Genetic Literacy Project recently reported, while an alcoholic beverage a day, especially wine, is widely believed to help keep heart disease risk low, research from the University of Gothenburg shows that only about 15 percent of the human population—those with a specific the form of the cholesteryl ester transfer protein (CETP) gene—actually gain this benefit from moderate alcohol consumption.

Although there are hundreds of organic compounds in wine which have been associated with cellular protective effects, many conversations about wine (at least more recently) boil down to a compound known as resveratrol. Resveratrol (note the spelling – it’s often mis-spelled) is an organic compound (a plant phenol actually) found in the skins of grapes, and therefore in red wine (but to a much lesser degree in white wines because of the lack of use of grape skins), and also in dark chocolate, peanuts, and blueberries. It has had a fairly reasonable association with reduced levels of heart disease, which is how resveratrol first came into the public vocabulary.

How resveratrol actually works is still not fully understood, but it has been suggested to work by influencing the production of a protein in the body called sirtuin-1, coded by the SIRT1 gene. When news of this was first published, it was considered somewhat of a magic bullet for a host of diseases and disorders. As is often the case, the truth settled to a somewhat less-interesting level.

New research published in Scientific Reports suggests that resveratrol also seems to have a positive effect on learning and memory. This study was done in rats, and showed that neurogenesis (the growth of new brain cells) and spatial learning and memory improved in those receiving doses of hippocampus-highlightedresveratrol compared with the untreated (control) rats. There were also changes in the microvasculature (tiny blood vessels) of the hippocampus, an area of the brain involved in learning, memory, and mood.

But the potential benefits of resveratrol is hardly a settled issue.

An 11-year study of men and women 65 years or older in Italy’s Chianti region published last year in JAMA Internal Medicine found that “dietary resveratrol from Western diets in community-dwelling older adults does not have a substantial influence on inflammation, cardiovascular disease, cancer, or longevity.” In other words, resveratrol from foods like red wine, chocolate, and grapes were not associated with improved health, in this particular study. Two years ago, The Atlantic reported that in a small study of men, resveratrol seemed to “undermine the cardiovascular benefits of exercise.”

One of the discussions we’ve had within the American Association of Pharmaceutical Scientists (AAPS) Nutraceuticals and Natural Products focus group is how to stabilize the bioavailability of resveratrol molecules, which are notoriously very volatile once consumed. To do so would allow it to work its beneficial effects in the body for a longer period of time before it was metabolized, and to achieve reliable results without having to simply keep increasing the dose to achieve a biological effect (which, in the case of wine, doesn’t always seem like such a bad thing).

This may even tie into the phenolic compounds within apple juice, which have been reported as perhaps helping to stave-off Alzheimer’s disease.

Also, see our report on how alcohol’s benefits are tempered by genetics.

So whether it’s dark-skinned grapes, berries, or red wine (and don’t appear too choosy, because you likely can’t tell the ‘good’ from the ‘bad’ anyway), you may be doing your spatial learning and memory a favor if you have some (in moderation).

Ben Locwin, PhD, MSc, MBA is a Contributor to the Genetic Literacy Project and is an author of a wide variety of scientific articles for books and magazines. He is also a researcher and consultant for a variety of industries including behavioral and psychological, aerospace, food and nutrition, pharmaceutical, petrochemical, and academic. Follow him at @BenLocwin.

Past week’s top 6 stories on #GeneticLiteracy Project

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This past week, here are the #TOP6 among many great stories on human and agriculture genetics around the world. Please share and help spread the news!

  1. How your food would look if not genetically modified over millennia, by 
  2. Why Native Americans are concerned about potential exploitation of their DNA, by 
  3. Pasta? Ruby grapefruits? Why organic devotees love foods mutated by radiation and chemicals, by 
  4. How activists, sloppy reporters turned genetic firewall story into hysteria-gram on GMO dangers, by  &
  5. Drugs from where?! Female genitals may be source of uniquely effective antibiotic, by 
  6. Call for action: It’s time to March Against the March Against Monsanto, by  &

All this and more! Be sure to sign up for the newsletters and follow us on Social Media. We are on Facebook, Google+, Twitter, Pinterest, StumbleUpon, and now Medium too! Please feel free to share all the news about human and agricultural genetic literacy!

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Genes tell new story: Alcohol in moderation only benefits 15% of population

An alcoholic beverage a day, especially wine, is widely believed to help keep heart disease risk low, but research from the University of Gothenburg shows that only about 15 percent of the human population — those with a specific the form of the cholesteryl ester transfer protein (CETP) gene — actually gain this benefit from moderate alcohol consumption.

What the study shows, beyond the fact that our understanding of alcohol’s health benefits needs to be more subtly shaded, is that genetics may play an underrated role in many health factors. We talk about health in absolutes, but how many of the “rules” we follow (e.g. don’t eat red meat) are in fact conditional on our particular genetic makeup?

The Gothenburg study, published in the journal Alcohol, re-examined the effects of moderate alcohol consumption on 618 patients of both genders, under the age of 75. The researchers collected blood samples from all participants, and included over 3,000 types of heart-healthy control subjects. In addition, all participants were measured for parameters such as height and weight.

First, researchers singled out patients with a genotype (CETB TaqIB) known to reduce the risk of heart disease. Within these patients, they found two distinct groups with based on whether they had the B1 or B2 version of the CETB gene.

Results revealed that people with the B2 allele exhibited a lower risk of coronary heart disease, and the result was more significant on people who enjoyed moderate alcohol consumption. However, in their testing group, only 19 percent of their patients had the B2 allele. People who already have an innate resistance allele mutation to heart disease had their resistance boosted further by moderate alcohol consumption.

Professor Lauren Lissner, head of the Public Health Epidemiology Unit at Gothenburg and an author of the study, stress that a common attitude toward alcohol focuses on the idea that “moderate drinking has health benefits for everyone.” Unfortunately, evidence suggests that this advice may be untrue for a large portion of the population.

Now consider other health advice in the context of these findings.

When my mother was pregnant with me, her obstetrician told her to drink a small glass of red wine each day to benefit her heart and my fetal development. Some doctors recommend that you completely avoid alcohol when you’re expecting; others still say that occasional light drinking is unlikely to harm your baby.

A 2009 study published in the Journal of Sexual Medicine found that the chances of erectile dysfunction were reduced by 25 to 30 percent among alcohol drinkers. The lead researcher, Kew-Kim Chew, an epidemiologist at the University of West Australia, conducted the study with 1,770 Australian men. However, even Chew himself said that more research was needed to accurately complete the connection between male performance and alcohol.

It seems likely as more studies like that at Gothenberg take place, we’ll come to understand that our health recommendations cannot be issued as absolutes, whether they’re about alcohol or exercise or disease. Instead, genetic analysis will allow us to follow increasingly customized guidelines based on our own unique genetics. Until then, perhaps we should take sweeping medical recommendations with a grain of salt.

Emily Sutherlin is a science journalist focusing on education and communication issues surrounding crop and animal biotechnology. Follow her @kimberlyvmonet.

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Female Hormones

Drugs from where?! Female genitals may be source of uniquely effective antibiotic

The lack of new drugs, specifically antibiotics, in the drug development pipeline of major pharmaceutical companies has drawn a lot of attention. While many of the antibiotics we still use were derived from the natural environment surrounding us, and then further in the lab, these sources have dried up as drug companies spend resources on more lucrative compounds that target chronic disease.

But a study from University of California San Francisco has found a natural antibiotic from an unexpected place: a vaginal bacteria.

To do this, scientists analyzed genes taken from the microbiome, the vast array of microbes that live on us and in us, to look for specific genes that make chemical products similar to known antibiotics. They found thousands that matched a type of antibiotic, called thiopeptides, that are currently under development by pharmaceutical companies.

When the team looked closer at these antibiotic-producing genes, hundreds were isolated to a vaginal bacteria called lactobacillus gasser. When the bacteria was grown in the lab, it produced thiopeptides that were able to kill off the Staph bacteria. The microbes in our guts and on our bodies are in constant competition with each other for resources, so its not surprising that one bacteria would produce a chemical that kills off another.

This is the first time, however, that scientists have been able to identify and culture an antibiotic from the human microbiome:

“To my knowledge, this is the first work that isolates new compounds with strong drug potential from the human microbiome,” says Rob Knight, a microbial ecologist at the University of Colorado, Boulder. “This work provides an exciting platform for mining our microbiomes for new compounds of medical interest.”

The team plans to continue looking for antibiotic contenders in our microbial companions.

Fecal transplants, which carry a generally higher yuck factor, already help recolonize the gut bacteria of people with severe C.difficile infections. These patients can suffer from horrible diarrhea and abdominal pain for years, and many infections are resistant to available antibiotics. Some patients who receive fecal matter from a healthy person beat the infection as the healthy bacteria beat back the over-colonization of C.defficile.

As we look towards other sources to develop much needed antibiotics to beat back bad bacteria, the irony that the best contenders are living on and in us should not keep us from looking close to home.

Additional Resources:

 

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Circadian desynchrony: Can obesity be treated with electricity?

What causes obesity? It’s certainly multifactorial. There are conflicting reports in the news this week that the driver could be economics or a variety of family-related factors, including  low vitamin D levels during a mother’s pregnancy, and short breastfeeding duration.

Overall, more than 500 million people worldwide are identified as obese (greater than 10 percent of the world’s adult population) and about 1.5 billion who are overweight. Treatments for obesity include diet, exercise, education, gastric banding, stomach stapling and various other conventional and alternative therapies.

Simply stated, if calories consumed are fewer than the calories expended, the rest is basic thermodynamics. There are certainly genetic and medical conditions which make individuals have different metabolic rates, different levels of certain hunger and satiety hormones (such as leptin and ghrelin), and different exposures to activity and food choices which are in-part personal, regional, and cultural.

There have been proposals that the very presence of our ability to harness electricity for artificial lighting, computers, smartphones, tablets, etc. has been a cause of obesity. Why? The premise is called circadian desynchrony, where our metabolic functions (which are intended to repeat on a cycle of about one day) are interrupted by the fact that we short-circuit them by fooling our bodies into always thinking that it’s daytime (by, for example, computer screens glowing in front of our eyes at all hours of the day or night. This has been proposed as being due to light from the ‘blue’ end of the spectrum being preferentially emitted by laptops, smartphones, and tablets – this bluish light seems to have a differentially-greater effect on our circadian alertness than light from other parts of the spectrum). This affects levels of hormones and indirectly eicosanoids, which are sensitively linked with how our bodies estimate day or night. This effect is so robust it is being evaluated for optogenetic technologies to influence sleep and wakefulness, and waking vigilance.

New technologies

While diet/exercise and surgery represent the two polar opposites of the weight loss spectrum, the makers of a recently FDA approved device consider that their apparatus “would fit nicely between the two [ends of the spectrum].” The device is FDA-approved for those who are severely obese (defined as a body mass index (BMI) between 35 and 45) as well as having a concomitant weight-related health condition. There are other devices as well which either work in similar ways, either blocking the vagus nerve and delay gastric emptying or altering muscular contraction to change how to stomach empties.

The electrical stimulation technology works essentially by being fitted around the vagus nerve branch connected to the stomach and modulating nerve impulses that travel between the stomach and the brain, altering the motility of the stomach and the psychosomatic aspects of hunger linked to stomach sensations. In fact, some emotional feelings like fear and anxiety have been found to be in part malleable with vagus nerve blocking. Such neuromodulation has already been used in epilepsy and cluster headaches, and could be pursued further in the depression and anxiety spaces.

Although it seems so far in limited trials to be most apt at modest weight loss (~9 percent, which is about 50 percent greater than the weight loss experienced by the placebo group), there are significant numbers of potential surgery candidates in the general public who do not pursue that option because of fear or anxiety around the procedures. Depending on the mid- to longer-term results in the general public, this technology may represent a modality for future refinement, and also represents an option which is durable and could be almost completely reversible, should the user so choose.

Clearly, electricity and technology aren’t in and of themselves the culprits in obesity, but how we harness them to help or heal is directly within our control.

Ben Locwin, PhD, MSc, MBA is a Contributor to the Genetic Literacy Project and is an author of a wide variety of scientific articles for books and magazines. He is also a researcher and consultant for a variety of industries including behavioral and psychological, aerospace, food and nutrition, pharmaceutical, petrochemical, and academic. Follow him at @BenLocwin.

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Jurassic World: Can cloning revive extinct species, protect endangered ones?

Teasers are already running for what is expected to be the blockbuster movie of the summer, Jurassic World, the follow-up to Stephen Spielberg’s 1993 classic Jurassic Park, in which scientists used cloning to bring dinosaurs back to life. Twenty-two years later, Isla Nublar now features John Hammond’s fully functioning dinosaur theme park—and then all hell breaks loose.

It’s bound to be immensely entertaining, but as for plausibility? Reviving an animal from Earth’s Mesozoic era (~245-65 million years ago, when the dinosaurs lived), is theoretically possible, but highly improbable. First of all, cloning would depend transfer of the dinosaur genetic material into the egg of an extant (currently living, not extinct), yet related, animal. The best available candidates are birds; if we want to revive a large dinosaur, we’d need a bird that lays large eggs, such as an ostrich. It’s not clear that this would be good enough, but to host the dinosaur genome through development, a large bird egg would be the best bet.

As for the DNA, in certain environments, it can remain stable in bones for millions of years, and preserved genetic sequences can be analyzed for fascinating evolutionary studies. On the other hand, obtaining the entire genome of a dinosaur is unlikely, and filling in the missing sequences with modern genes would be useful, only if there are very few missing sequences.

Alongside the technical issues, some have raised possible ethical issues. For instance, the first generation would have no parents, they would have predators, and, as made clear in Jurassic Park, they could prey on other species. Getting them into balance with our current biosphere could be tricky.

On the other hand, consider an animal that has gone extinct much more recently than dinosaurs and the ethics and the science become easier. We enter more realistic territory from the perspective of technical feasibility. This is due both to the availability of extant egg donor closely related to the extinct animal and to an increased likelihood that all, or nearly all, of the extinct animal’s genes will be preserved in its fossilized remains.

For this reason, over the last two years, media have gone wild over the story of a woolly mammoth that died approximately 40,000 years ago and whose remains were discovered in Siberia. Woolly mammoths have been extinct only for 10,000 years (small groups of mammoths persisted several thousand years longer in a few locations), compared with the most recent dinosaurs that have been extinct for 65 million years.

At the same time, because of the cold environment of Siberia, not only are the bones of the mammoth a good source of DNA, but even soft tissues are well preserved, including blood and bone marrow (good sources of DNA). Either the entire genome is available, or there are only small gaps that scientists can fill with synthesized sequences. The complete genome can be transferred into a host egg –in this case from an Asian elephant, which is much more closely related to a mammoth than an ostrich is to a dinosaur. Finally, the egg containing the mammoth genome can be implanted into an elephant to be a surrogate mother for a 22-month pregnancy, and throughout childhood.

As with dinosaurs, the idea of cloning mammoths has sparked an ethics debate. In the case of the mammoth, some argue that humans actually have a moral obligation to revive the species, based on the idea that humans hunted the giant animals to extinction. This rationale is contradicted by a recent study by British and Swedish scientists, pinning the extinction on climate change, namely the warming of Arctic regions as the most recent ice age came to an end. But nature’s possible role in mammoth extinction is not the reason why the mammoth cloning project has opponents.

“You’re dealing with highly intelligent, highly social animals,” says paleobiologist Tori Herridge of London’s Natural History Museum, whose concerns center on the fact that the elephant surrogates would not be an exact match of the mammoth’s natural parent.

Moving to more recent times since extinction, the ethical arguments against cloning get weaker, right up to the time since extinction being zero. In other words, we can extend the idea of species revival cloning to cloning for preservation of species not yet extinct, but endangered. On this issue, some say that cloning is so inefficient that efforts to preserve dying species with cloning techniques would be futile. But other experts believe it is only a matter of time before cloning becomes a viable option for species conservation. As with other applications of cloning, the rapid development of technology is sure to open up some fascinating possibilities, along with a host of debates.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

Image via Boston Public Library (Creative Commons)

Why Native Americans are concerned about potential exploitation of their DNA

Until the advent of genetic genealogy, knowing your ancestry meant combing through old records, decoding the meaning of family heirlooms and listening to your parents and grandparents tell you about the ‘good old days’. For anthropologists and archaeologists interested in going back even further in time, the only reliable means of understanding human history were trying to interpret ruins or remnants of skeletons or other information uncovered at the site of remains.

DNA testing has changed all that, allowing us to delve far deeper into our past than before and with a much higher degree of accuracy. Although there are many issues stirred by DNA testing, none is more provocative than interpreting our family and tribal ancestries.

Nowhere is this more apparent than among the Native American tribes in the United States. I recently wrote about a large scale genetic analysiss among the American population by personal genetics and genealogy company 23andMe, using its extensive database to begin to decipher the ancestral origins of various ethnic groups in the United States.

Though the study involved more than 160,000 people, less than less than one percent of those who participated self-identified as Native American. Rose Eveleth, a journalist writing for The Atlantic suggests that this lack of participation may have a lot to do with how native tribes perceive genetic testing,

But when it comes to Native Americans, the question of genetic testing, and particularly genetic testing to determine ancestral origins, is controversial. […] Researchers and ethicists are still figuring how how to balance scientific goals with the need to respect individual and cultural privacy. And for Native Americans, the question of how to do that, like nearly everything, is bound up in a long history of racism and colonialism.

[…] for Native Americans, who have witnessed their artifacts, remains, and land taken away, shared, and discussed among academics for centuries, concerns about genetic appropriation carry ominous reminders about the past.

Eveleth references the widely publicized case where the Havasupai tribe living near the Grand Canyon sued an Arizona State Unviersity scientist for using genetic samples collected from the tribe to conduct research outside of the purpose of the original study. The crux of the issue was the consent form which covered a broad range of uses for the samples–a fact that the tribes claimed was not explained to them appropriately.

Although the tribe won the case, reclaimed the samples and settled with the university for $700,000, the issue captured the front page of the New York Times and put “every tribe in the US on notice regarding genetics research” as Native American tribal research ethics expert Ron Whitener quoted in an article titled “After Havasupai Litigation, Native Americans Wary of Genetic Research” published in the American Journal of Medical Genetics Part A.

Around the same time that the genetics of the Havasupai were being studied, another high profile issue bought Native American tribes in conflict with researchers. The ‘Kennewick Man’, an approximately 9000 year old skeleton was discovered by accident in 1994 in Kennewick, Washington. The Umatilla tribe which were indigenous to the region sought to reclaim the remains under the 1990 Native American Graves Protection and Repatriation Act to bury it in accordance with traditions. Anthropology researchers who wanted to study the skeleton however, argued there wasn’t enough evidence to convincingly show that the remains were Native American and therefore should not be returned. This resulted in a widely publicized eight year long legal dispute between scientists and the government that ended in 2004 with the court ruling in favor of the archeologists, a decision that the tribes were expectedly unhappy with.

Now, the issue has come under the spotlight once again with the Seattle Times reporting last month that preliminary DNA analyses indicated that the Kennewick Man was indeed of Native American ancestry. Apart from settling the academic debate, this finding could reignite the social and political controversy that surrounded the affair as the tribes engage in renewed efforts to retrieve the skeletal remains and prevent further research on it.

While it is understandable that tribes are concerned about how their personal DNA (and that of their ancestors) is used, it is a stretch to think that this information might be used to “develop biological weapons or justify genocide” as Eveleth suggests. Nevertheless, genetic testing be it for public health or anthropological purposes is a tricky and thorny path to tread, particularly among Native Americans as she points out in her article

So to many tribal people, having a scientist come in from the outside looking to tell them where they’re “really” from is not only uninteresting, but threatening. “We know who we are as a people, as an indigenous people, why would we be so interested in where scientists think our genetic ancestors came from?” asks Kim Tallbear, a researcher at the University of Texas at Austin, the author of Native American DNA: Tribal Belonging and the False Promise of Genetic Science, and a member of the Sisseton-Wahpeton Oyate tribe.

[…]So what should a geneticist do, if she’s interested in exploring a question that might involve gathering Native American DNA? It depends. Tallbear says that long before any research questions are formulated and samples are taken, the researcher should actually have a relationship with the tribe. “I think people who want to do genetic research on Native American topics really shouldn’t be doing it unless they’ve got a really considerable history of contact with native communities.”

Razib Khan, an evolutionary genetics researcher at the University of California, Davis , takes issue with how Kim Tallbear, the anthropology researcher at the University of Texas at Austin and author of the book “Native American DNA: Tribal Belonging and the False Promise of Genetic Science” discusses the topic in the Seattle Times article (emphasis Khan’s).

Let’s not beat around the bush here, Native Americans and the government and culture of the United States have a fraught relationship. That is true. But today genetics has pretty much zero relevance to the various political debates and arguments. Issues like tribal membership are determined by the cut & thrust of politics, not genomics.[…] And contrary to the implication that Tallbear makes, most scientists who work on Native American genomics don’t do so because of a deep interest in overturning the religious traditions of Native Americans, but because they are interested in the human story, of which Native Americans are an essential part. Rather than ethnic particularism the motives of scientists on the whole are those of universalist humanism.

So one can understand why political activists might balk at the inquiries of geneticists, as universalist humanism often causes problems for those engaged in the great game of ethnic particularism. But what about the academics who lend their voice in support of the latter?

In his analysis, Khan is frustrate–not at how the public is debating the issue but specifically at academics, who give in completely to personal biases and refuse to accept unequivocal genetic evidence. He compares Kim Tallbear with sociologist and intelligent design apologist Steve Fuller, ending with this furious volley (emphasis Khan’s).

Here is an indisputable fact: science is not religion, and the two are very different enterprises. If you don’t accede to this distinction, you have just lost all touch with the empirical world […] The flight from empiricism is exactly what has occurred to many scholars within science studies, probably because that’s where the career incentives are.

Most academics who are skeptical of the “objective” “truth” “claims” of “science” also agree with this fact when they have to put their choices where they mouth is. If they’re diagnosed with “cancer” they won’t put chemotherapy in quotations or demand the services of a tribal shaman. It’s going to be the best science for them and their family. That’s not just a theory, that’s a fact.

While Khan is right, many tribes are quite reluctant to consent to using their DNA or that of their ancestors for research. However, antagonizing the tribes through public personal and legal battles might only serve to alienate them further. In her Atlantic essay, Eveleth outlines the more cautious approach taken by anthropologist Dennis O’Rourke at the University of Utah and how the native tribes contend with their mixed feelings about research.

… O’Rourke works collaboratively with tribes who are interested in what he’s doing. […] Some tribes, he says, worry about it, while others don’t. “It’s important to be very clear about what my interest in the research questions are,” he said, “so if they’re not of interest to the communities they can make that judgment very early and I don’t waste their time in trying to pursue things that aren’t acceptable.”

[Nick Tipon, vice-chairman of the Sacred Sites Committee of the Federated Indians of Graton Rancheria] says that most tribes are struggling to balance what good might come with what harm they might be doing to tradition and their ancestors. “If someone could come to us and say ‘yes, if we destroy this ancestor of yours, maybe we’d find a cure to cancer,’ would we still have the same feeling? We’re still struggling with that. Our traditional cultural feeling is you’re buried, that’s where you rest in peace, but all societies change. We talk about it. We wonder where the right answers are.”

This is one of the forks on the road where science and society could part ways at the cost of both–to travel together will require a commitment to strong science and common sense.

Arvind Suresh is a science communicator and a former laboratory biologist. Follow him @suresh_arvind.

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Starship “Egg”: Sending unborn, frozen embryos across interstellar space

Because of popular science fiction television shows and movies—last year’s blockbuster Interstellar comes to mind—many people are aware of the sleeper ship concept as a means of transporting human beings across the immense distances of interstellar space.

In recent years, the search for planets around stars other than the Sun has been amazingly successful. To date, more than one thousand planets have been confirmed orbiting nearby stars, most of them discovered by NASA’s Kepler space telescope. Some of these planets are Earthlike, including three that were discovered just in the last month, and this means that worlds that we’d want to colonize could be nearby.

But “nearby” means a few light years away.

Propelled by nuclear fusion engines, which we do not have yet, voyages on that scale would take several decades, and knowing this sci fi writers for a while now have imagined astronauts hibernating through the voyage. Sleeping with the aging process suspended or reduced to a fraction of the normal rate, human colonists could arrive young and full of vigor at a destination world.

Given current trends in biotechnology and medicine, it’s probably reasonable to suspect that we’ll have a safe form of human hibernation–also called suspended animation–before we have nuclear fusion engines. Hibernation is a wonderful option for a small crew of explorers, but for a distant planet with an Earth Like environment, our goal will probably be colonization. To assure adequate genetic diversity for long-term survival, a starship would need to transport 10,000-40,000 colonists. That’s according to calculations by Portland State University anthropologist Cameron Smith, and it means we’re talking about a ship the size of a city.

On the other hand, even on a fairly small ship, the numbers can be increased substantially by suspending humans in an immature state–as embryos, or even as gametes (egg and sperm cells). We already have the technology to keep embryos and gametes frozen for as long as we want; we do this on a regular basis today. Pack up a bunch of frozen embryos or gametes, put them in a freezer at -200°C, launch the freezer on a trip across space, and that’s an egg ship, or, using alternate terminology, a seed ship.

As for who, or what, goes along with the human seedlings, a few different strategies are possible, depending on available robotic and hibernation technology, the level of our ambition to spread humanity through the cosmos, and the direction that our sense of ethics evolves in connection with emerging biotechnology.

Hybrid sleeper-egg ships and world ships

This first strategy depends on human suspended animation being achieved and proven safe for those hibernating for many years or decades. A small crew of a hundred or so adult humans, mostly young women, would travel in suspended animation, along with many thousands of frozen embryos or gametes. Since it would be impractical for all of the adult colonists to be pregnant at the same time anyway, some men could be included, but too many would be a waste of valuable space, as one of the main functions of the adults would be carry out pregnancies. Also, the need for a female majority would prioritize gay women in the crew selection process. Given this idea, along with the thousands of frozen embryos, social conservatives may have some modest objections to the sleeper-egg ship concept.

After arrival at the destination world and establishment of a safe, first outpost, some of the embryos would be thawed (or some gametes thawed to make embryos through in vitro fertilization). Most of the women would be impregnated a few times over the next several years. The children would be raised and educated, and, to keep the gene pool diverse, the first generation of women born on the colony world would get pregnant, not from their colonial brothers and cousins, but from newly thawed batches of preserved embryos, or gametes. This would go on for a few generations as the population builds up.

A variation on the hybrid sleeper egg ship is an egg ship combined with a world ship. Instead of hibernating, adult colonists would spend the long travel time in a kind of moving space colony. It would need farms to maintain a food supply, and enough activities and space to keep everyone from getting bored. Therefore, it would have to be orders of magnitude larger than a sleeper ship, and carry many more than a hundred adults. Like the hybrid sleeper ship, it also would carry many thousands of frozen embryos or gametes, but also young children leaving Earth with the adults; that way, the embryos could be implanted in women of childbearing age upon arrival at the colony world.

Robot nannies

The next strategy is to forget about sending adults and send just robots and computers to develop and raise the gametes or embryos into the colonial pioneers that they’d need to be. This idea eliminates the need for achieving long-duration suspended animation, and for the large volume inside the ship and payload mass that would be needed to support a hundred hibernating adults. But it requires other technological developments, beginning with the artificial uterus. As I’ve written previously on this blog, technology for developing an embryo from fertilization to birth, completely in a machine, instead of a woman’s body, is developing in increments. It’s a an easy bet to expect that we’ll have motherless birth by mid century, probably before we’re sending even tiny robot ships to the nearest star, possibly even before we send the first human mission to Mars. As with human hibernation, early forms of the artificial uterus will probably depend on the presence of medical staff overseeing the process and sometimes intervening. But given how rapid computer and artificial intelligence technology is advancing, even completely automated systems are not unreasonable to imagine.

Once the children are born, however, light years away from Earth, we have to consider their rearing and education. We’re talking about doing this all with computers, robot or android nannies, videos, and maybe holographic projections. The first generation of colonists will grow up with no human parents, grandparents, uncles, or aunts. They won’t even have any nearby sports teams to admire, although they could watch events transmitted from Earth (delayed by a few years, due to the distance).

Pondering this may evoke horrific images from William Golding’s novel Lord of the Flies, but this interstellar mission would employ technology and very good planning to make sure, not only that the children survive infancy, but grow up as civilized human beings. From birth, android nannies would cuddle them, and computers would educate them over the next quarter century, and help them form a government. In addition to technology and career training, the robots would have to teach the kids how to avoid the wrong kind of pregnancy–the natural kind that could harm genetic diversity of the budding colony– and help them in rearing the second generation.

No matter how advanced the technology for intelligence by that time, we wouldn’t know if the plan would work, unless we test it first on Earth. In other words, we’d have to experiment with babies raised by android nannies in an isolated environment with no other people. Ethics alert; our current society would not allow this, I agree with their reasons, and I hope you do too.

But, just for fun, let’s ponder this scenario, a little longer. While growing up, the colonists must be told about Earth history and their origins, and, hopefully, not too many out of hundreds will find that news so unsettling that they turn to violence. Thinking about the latter possibility reminds us that the robots and computers will also have to give out punishments. Eventually, they’ll have to serve as judges when things become more complex as the children mature. Will any machines capable of such a high level of mental function be willing to give up their positions of power when the first generation of human colonists is ready to take over the leadership? Should they give up their power? Having thirty years more experience in the new world than the first generation of humans, relinquishing leadership might not be in the best interest, either of the machines or the humans.

In that case, why bother sending humans at all? In a new book scheduled for publication this fall, Louis D. Friedman, Executive Director Emeritus of The Planetary Society suggests that machines will eventually render humans obsolete in space travel.

“Robotics, artificial intelligence, and bio-molecular engineering are evolving faster than humans,” says Friedman, who co-founded The Planetary Society with Carl Sagan and Bruce Murray in 1980. “We might make it to Mars, but from Mars to the stars human presence may be without humans present.”

It may be logical, but we may wish to send physical humans anyway. A main motivation for a colony could be human survival, making ourselves not only a multi-planet species, but also a multi-star system species.

Combined strategy

Considering the unknowns regarding the android nanny idea, the two earlier strategies that include adults look much better to me. On the other hand, this does not mean that android nannies could not be used to assist the human parents on their mission to establish a human presence on a new world. The artificial uterus could be used as well to increase the number of children born in the first few generations, which also frees the adults of the burden of numerous pregnancies. It also means that we could send a more Earth-like female-to-male ratio of 50:50 for adult colonists, allowing the new generation to grow up with fathers, which is just as important as having mothers. All in all, if we’re going to transplant ourselves, which is a smart thing to do if we want humanity to survive into the far future, keeping a more conventional biological environment is probably also wise.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Alert for athletes and astronauts: Gene editing moving into clinics, results promising

Gene editing has been in the news because of a new method that promises to develop into therapies for inherited diseases. Just like editing a written document involves changing and replacing letters, words, and sentences, gene editing means exactly what you would think it means. Many inherited medical conditions result from what are called “base pair substitutions”–replacement of certain genetic “letters” in a person’s genome with the wrong letters. This is different from knocking out a letter completely, or adding a letter, leading to what’s called a phase-shift mutation. By replacing the wrong, or mutated, genetic letters, with the correct letters, gene editing theoretically could cure a genetic disease.

Achieving this in all of a person’s affected cells is complicated. However, inspired by a system that protects the DNA of bacteria from viruses, the new method gets around the usual complications. It looks so promising that, in addition to beckoning as an upcoming cure for people afflicted with sickle cell anemia, cystic fibrosis, and other genetic diseases, it’s being considered for preventive treatment as well. This means treatment for those lacking symptoms, but at risk due to their genes. Or, the treatment could be useful for carriers, who usually don’t get sick, but might have symptoms in certain situations.

Novelty of the new method

Using agents, such as viruses, to carry a functional copy of the faulty gene into body cells, traditional gene editing methods often do not actually eliminate the faulty gene. The DNA with the new sequence either exists in the host cell distinctly from the chromosomes, or integrates into a chromosome. But, even if it integrates, it’s not always at the same location as the defective gene, nor does it replace the defective gene. Just as hand-editing a hard copy letter by writing the correct spellings alongside misspelled words does not leave a cleanly-edited document, traditional gene editing methods do not rid treated cells of the defective copy of the gene. This may not matter in cases when the defective gene, though unable to make a functional product, does not produce anything that’s detrimental. But if the defective copy of the gene is doing damage, simply adding a correct copy is not enough.

Used in research by a Cambridge, MA startup company called Editas Medicine and a team at Hiroshima University in Japan, the new technique is more like editing a document with a word processing program on a computer–just as I’m doing while writing this. It uses special protein molecules called programmable nucleases and specially sequenced RNA (a molecule similar to DNA) to achieve what’s called “gene knock in”.

Essentially, this means that any gene can be pasted into the genome of cultured cells, or cells of living organism, at the same time removing an unwanted sequence. Inspired by a similar system of molecules that certain bacteria use to protect themselves against viruses, the new system essentially does surgery on the faulty gene, cutting it out and replacing it. This capability is so powerful that it constitutes a sea change in the field of molecular medicine.

Technical and ethical challenges

On the technical side, challenges stem from the fact that the DNA cutting components in the new system (programmable nucleases) look for specific DNA sequences that surround the faulty gene sequence. Because similar sequences can be present in other parts of the genome, it’s possible for the wrong gene to get replaced. Thinking of the programmable nucleases as molecule-sized surgeons operating inside the nucleus of cells, such a mistake would be the genetic equivalent of a surgeon operating on the wrong organ.

Based on results in cell culture, as well as in animals such as frogs and silk worms, the system is expected to become more accurate, and ultimately very safe. But, as with any treatment, the risk of ill-effects will never be zero. Thus, further down the road is a more complex issue of what to do for people who have some genetic risk, yet in whom a disease has not manifested. In cases of gene variants associated with certain diseases, often the disease never manifests at all. But what should be done for those with diseases for which the genetic variant is surely the cause of the pathology.

Take the sick cell gene as an example. This gene causes red blood cell precursors to make defective hemoglobin. What if you’re a carrier, which is to say that you have the sickle cell trait – one copy of the gene for sickle cell hemoglobin and one normal copy of the gene. Under normal conditions, a person with sickle cell trait will never get sick. But, when stressed, due to extreme physical exercise, dehydration, or high altitude, people with sickle cell trait can have a sickle cell crisis. They can get sick, just like a person with sickle cell disease (a person who has two copies of the defective gene). For such a person, is gene editing warranted as a preventive measure? Maybe yes, maybe no, or it might depend on the person’s lifestyle. An elite athlete, a mountain climber, an aspiring astronaut, or test pilot–any of these might be a good candidate for the preventive gene editing therapy.

Probably, these questions are merely the tip of the iceberg compared with the full collection of clinical trade-off issues and ethical dilemmas that will surface when efficient, reliable gene editing makes its way to the clinic. But it’s a hint of things to come.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.