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 identified the earliest case of a genetic disease with the help of DNA: ...

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 ...

Researchers led by the University of Vienna and Liège University Hospital Centre have identified genetic variants associated with a rare inherited growth disorder in two prehistoric individuals who ...

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

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.

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...

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