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

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

The crisis facing rare disease and disability families in Connecticut is caused by systemic underinvestment, administrative barriers, and policy choices.

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

A double burial found in southern Italy more than 60 years ago has just yielded a striking new secret: ancient DNA has confirmed a rare inherited form of dwarfism in a teenage girl who lived around 12 ...

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

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from ...

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

Quince Therapeutics’ novel method of delivering steroids in a patient’s own red blood cells has turned out to be a bust in ataxia-telangiectasia (A-T), a rare inherited disorder. | Quince Therapeutics ...

Etta Cartmill will receive a kidney transplant after already spending five weeks in the hospital following a liver transplant ...

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