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 ...

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 ...

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

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 ...

PITTSBURGH — A child’s fight with a rare disorder is inspiring others to offer a life-saving gift. Her name is Clementine Blackham. “She got hers, but now we’re going to find everyone else’s,” said ...

Catherine O’Hara, who died at 71, once revealed she lived with situs inversus, a rare genetic condition in which internal organs are reversed. During an interview, “I am a freak,” she joked at the ...

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 ...