A genetic breakthrough reveals why mental health conditions often occur together. New research identifies five disorder ...

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

Marley Mansour, 11, is tickled by mom Kayla Mansour on her bed at their home in Rowlett on Tuesday, April 29, 2025. Marley is set to make medical history as the first person in the world to receive ...

Researchers identify bone-forming cells as the driver of scoliosis caused by a genetic disorder, which can be prevented ...

For the first time, researchers at King's College London and the University of Florence have identified the specific genetic ...

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 ...

Patients with PFIC develop liver failure as a result of a buildup of a digestive fluid known as bile. When you purchase through links on our site, we may earn an affiliate commission. Here’s how it ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Following the first-ever treatment for spinal muscular atrophy in the womb, physicians say a 2-year-old girl shows no signs of the rare genetic disorder. Spinal muscular atrophy is a genetic condition ...