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

A teenager who lived in southern Europe around 12,000 years ago has become the earliest person in history to receive a ...

“I’m a freak,” the late actress teased ...

The legendary actress previously opened up about her rare diagnosis, however, there is no evidence it contributed to her ...

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

Huntington’s disease is a rare inherited neurological disorder that progressively affects movement, cognition and mental health due to a genetic mutation ...

Alström syndrome affects roughly one in 500,000 people. In May, Fort Worth will host a symposium of researchers looking into treatments.

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

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 ...

A rare form of diabetes affecting newborn babies and caused by a genetic disorder has been discovered by scientists in the UK and Belgium.

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

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 ...