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A businessman’s daughter has an ‘ultra-rare’ disease, so he immersed himself in science to find a gene therapy cure

Simon and Nina Frost had spared no expense, taking Annabel to all the best neurologists around the country. Finally a ...
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How a combination of rare mutations created devastating heart problems for this family

Heritable diseases — say Huntington’s, sickle cell anemia, or cystic fibrosis — are typically thought of as the result of ...
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Metagenomic next-generation sequencing: Breakthrough tool diagnoses mystery diseases

Decoding all the DNA in a patient’s biological sample can reveal whether an infectious microbe is causing the disease ...
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Using genetics and social media to find answers for rare ‘undiagnosed’ diseases

Having a strange and little-known condition is increasingly becoming a regular part of life, bonding patients together with a common ...
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‘Deadly dreams’? Modern genetics unravels mystery surrounding strange disease

Following decades of unexplained deaths, mostly among young men, modern genetics and epidemiological detective work helped to establish a link ...
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What the bulldog’s distinctive tail can tell us about this rare human genetic disorder

One of the most distinctive body parts of your typical English bulldog, French bulldog, or Boston terrier—their coiled screw tail—might ...
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Targeting rare diseases with RNA treatments

There are approximately 7,000 known rare diseases, however, less than 6% of these have a treatment. It is estimated that between 25–35 ...