A Rocky Ford family is sharing their story as they fight to save their young son’s life. Three-year-old Mason Matthews ...

Patients with rare diseases are increasingly working to find and fund their own cures. But should they have to?

A groundbreaking and highly controversial scientific initiative is now underway in the UK, as leading British researchers aim ...

Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are ...

Scientists at The Jackson Laboratory (JAX) have developed mouse models that survive premature death and enable pre-clinical ...

A collaboration between the Children’s Hospital of Philadelphia and Penn Medicine offers children and adults with Williams ...

Well-preserved genomes show a “rare” leprosy strain thriving in ancient Chile, rewriting when and where Hansen’s Disease ...

Charlie Health reports that eating disorders are significantly influenced by genetics, with family history increasing risk ...

Two Navajo mothers shared their children’s experience battling rare genetic diseases during the “Voices of the Diné: Bridging ...

Tel Aviv University researchers say their investigation into a GRIN2D gene mutation will advance research into a protein ...

June is Alzheimer's and Brain Awareness Month. Colbie Schueneman, 6, is sharing her story with KIF1A, also known as KAND.

Researchers at the Gray Faculty of Medical and Health Sciences at Tel Aviv University have developed a model that accurately ...