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

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

“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 ...

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

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

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

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

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 ...

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

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 ...