Friedreich's ataxia (FA) is a rare but devastating genetic disorder. Those with the condition are often diagnosed between 5 ...

Blood type A(B) is caused by a four gene mutations and was discovered when the blood of patients and donors was being studied ...

A new study reports that the locations where genes begin are particularly prone to mutations, and these genetic changes can ...

In a breakthrough study, scientists have discovered that a variant in one gene, GRIN2A, can directly cause mental illness – ...

EVE combines evolutionary insights with human population data to identify damaging genetic mutations, improving variant ...

Scientists have uncovered a surprising genetic workaround that helps cells cope with Friedreich’s ataxia, a rare and devastating disorder.

A new study has revealed that a single genetic mutation, found in all modern humans but absent in Neanderthals and Denisovans, could have played a role in the evolution of speech and language. The ...

A genomic analysis shows that transcription start sites are 35% more mutation-prone than expected, making them one of the genome’s most vulnerable regions. Many of these errors arise as mosaic ...

A team of researchers at the Icahn School of Medicine at Mount Sinai has uncovered why children with the same ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

Some children have already died and only a minority who inherit the mutation will escape cancer in their lifetimes.