Autism genetics research advancing faster than scientsists can comprehend

Last month, my colleagues and I published two large studies that sequenced the genes or exomes of thousands of families with a history of autism. These studies identified several dozen ‘high-confidence’ autism genes that show spontaneous, harmful mutations in multiple affected (and unrelated) individuals.

Picking the ripest of these low-hanging fruits — through ‘brute-force’ genomics and discovery of spontaneous, or de novo, mutations — has brought us much closer to understanding the genetics of autism than we were just five years ago. But to optimize what we can learn, our studies must be informed by what we have already discovered. We certainly need many more sequences from more families with autism. But these sequences need to be of the right kind.

When large-scale genomic analysis began on cohorts of people with autism, we hoped — and expected — to discover many, if not most, of the underlying genes. We have undoubtedly found many, and perhaps even most, using the broadest criteria for an autism gene.

We can now put forth a statistically sound estimate of the overall genetic contribution of de novo mutations of different categories to autism. (These categories include loss-of-function mutations — which prevent full protein production — and missense variants, which have a less clear effect on protein function.) There is little doubt that this approach remains the most powerful weapon in today’s arsenal —not just for autism spectrum disorders, but other neuropsychiatric and sporadic genetic disorders as well.

But we still cannot pinpoint the causal mutations for many cases of autism because the genomic background noise remains high: More than half of even the most damaging single hits to a protein are present in an individual by chance and are not linked to autism. Given this, it is not always clear what to tell clinicians and genetic counselors who are on the front line and wish to make use of these data.

So what is the future of family-based genomic studies of autism, with detection of de novo mutations as the central focus?

Read full, original article: Future of autism genetics should learn from its past

Outbreak
Outbreak Daily Digest
Biotech Facts & Fallacies
Talking Biotech
Genetics Unzipped
Video: Test everyone – Slovakia goes its own way to control COVID

Video: Test everyone – Slovakia goes its own way to control COVID

As Europe sees record coronavirus cases and deaths, Slovakia is testing its entire adult population. WSJ's Drew Hinshaw explains how ...
mag insects image superjumbo v

Disaster interrupted: Which farming system better preserves insect populations: Organic or conventional?

A three-year run of fragmentary Armageddon-like studies had primed the journalism pumps and settled the media framing about the future ...
dead bee desolate city

Are we facing an ‘Insect Apocalypse’ caused by ‘intensive, industrial’ farming and agricultural chemicals? The media say yes; Science says ‘no’

The media call it the “Insect Apocalypse”. In the past three years, the phrase has become an accepted truth of ...
globalmethanebudget globalcarbonproject cropped x

Infographic: Cows cause climate change? Agriculture scientist says ‘belching bovines’ get too much blame

A recent interview by Caroline Stocks, a UK journalist who writes about food, agriculture and the environment, of air quality ...
organic hillside sweet corn x

Organic v conventional using GMOs: Which is the more sustainable farming?

Many consumers spend more for organic food to avoid genetically modified products in part because they believe that “industrial agriculture” ...
benjamin franklin x

Are most GMO safety studies funded by industry?

The assertion that biotech companies do the research and the government just signs off on it is false ...
favicon

Environmental Working Group: EWG challenges safety of GMOs, food pesticide residues

Known by some as the "Environmental Worrying Group," EWG lobbies for tighter GMO legislation and famously puts out annual "dirty dozen" list of fruits and ...
m hansen

Michael Hansen: Architect of Consumers Union ongoing anti-GMO campaign

Michael K. Hansen (born 1956) is thought by critics to be the prime mover behind the ongoing campaign against agricultural biotechnology at Consumer Reports. He is an ...
News on human & agricultural genetics and biotechnology delivered to your inbox.
Optional. Mail on special occasions.
Send this to a friend