A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

Researchers led by the University of Vienna and Liège University Hospital Center have identified genetic variants associated ...

Catherine O'Hara, who died Jan. 30, previously opened up about a rare congenital condition called dextrocardia with situs ...

AMD is one of the rarest documented genetic disorders. Only around 10 million people in the world carry the altered NPR2 gene, and of those, just 3,500 are estimated to display the physiological ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

In 1963, researchers unearthed two Stone Age skeletons that were buried in an embraced position in a cave in Italy. Now, DNA ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...

A new AI model from Google DeepMind called AlphaGenome can predict how DNA mutations affect biological processes, helping pinpoint genes linked to diseases and speeding up drug discovery.

Is Obesity Genetic or Environmental? Get All the Details This article was reviewed by Lynn Marie Morski, MD, JD. Key ...

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 ...