In 1963, researchers unearthed two Stone Age skeletons that were buried in an embraced position in a cave in Italy. Now, DNA testing has revealed that one of them had a rare genetic condition.

A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe brain injury and death in healthy patients undergoing routine anesthesia.

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 genetic disease earlier. Their findings were published recently in EMBO Molecular Medicine.

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

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

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’ novel method of delivering steroids in a patient’s own red blood cells turned out to be a bust in ataxia-telangiectasia,

A teenager who lived in southern Europe around 12,000 years ago has become the earliest person in history to receive a genetic diagnosis. Ancient DNA from her skeleton has revealed a rare form of dwarfism,