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 ...

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

Marci Shelman and Tristan Dederscheck’s “miracle” baby was diagnosed with neonatal Marfan syndrome. After four months in the ...

A newly identified and rare genetic variant slows the growth of mutated blood stem cells and reduces the risk of leukemia.

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

The boy was born with the rare disease that would gradually take away his cognitive and motor function without treatment.

Kerala doctors successfully performed a life-saving liver transplant on a two-and-a-half-year-old child diagnosed with the ...

With a pair of Phase III trial flops, Ultragenyx will explore cost reductions as analysts turn attention to an upcoming ...

EAU CLAIRE, Wis. (WEAU) - There is still time to donate to “Full Court for a Cure”, a 31-day fundraising campaign to support ...

Ultragenyx Pharmaceutical said on Monday that late-stage studies showed its drug for a type of genetic bone disease failed to ...

A newly identified and rare genetic variant slows the growth of mutated blood stem cells, researchers report, and it reduces the risk of leukemia.

One-year-old twin boys have been diagnosed with a rare eye disorder that causes sensitivity to light and impaired vision.