The mutation has been linked to heart failure and sudden cardiac death.

Rutgers-Newark researchers have shown that a genetic variant specific to African ancestry alters the brain in a way that could foretell the eventual development of Alzheimer's Disease. At the same ...

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

The discovery could open up new ways for treating diseases such as MS by leveraging molecules that are already present in the ...

Scientists showed that a mutation in animals that live at high altitude promotes myelin regeneration, informing potential new ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

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 ...