With a rate of mutation 35 percent higher than random chance, this previously unknown weakness could be a major vector for inherited disease.

Their data suggests that tweaking the expression of FDX2 could make up for the loss of frataxin, the protein tied to FA's development.

A new study reports that the locations where genes begin are particularly prone to mutations, and these genetic changes can be inherited by later generations. Researchers have identified previously overlooked areas of the human genome that are especially likely to accumulate mutations.

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

In a breakthrough study, scientists have discovered that a variant in one gene, GRIN2A, can directly cause mental illness – something previously believed to be the result of several mutations working together.

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

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 research, published in Nature Communications, shows that ...

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 factors impact the rate of new genetic changes. These changes ...