A 5-year-old boy who was born with a rare genetic condition is now able to walk by himself, his mother has said, after ...

Her 14-year-old twin sons, Grady and Jace, both have PKAN, a rare genetic disorder that affects walking, eating, and speaking. As the family sits around their Christmas tree sharing memories and ...

U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and ...

People sometimes asked Tiffany Fransen if she was drunk. She wishes more people had heard of her rare disorder.

Rare inherited genetic variants significantly increase familial lung cancer risk, offering new targets for early detection.

In its standard definition, the word "rare" describes something that doesn't happen very often. So families who receive a diagnosis of a "rare genetic disease" understandably feel isolated and that ...

The parents of 7-week-old Dhruvan Gopi were warned he might not survive the night as specialists converged around his crib at ...

A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020. A ...

This year saw notable progress in head and neck cancers, Huntington's disease, personalized genetic therapy, and heart ...

A single, untargeted proteomics test for rare genetic diseases has been developed. A research team from the University of Melbourne (Australia) and Murdoch Children’s Research Institute (Victoria, ...

Motivated by 'Harry Potter' and fueled by mini muffins, one Utah woman turned an ordinary treadmill run into an extraordinary 26.2-mile feat Carissa Elise Resek Carissa Resek was born with a rare ...