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.

An Illinois family pushed for both boys to receive the potentially life changing medical treatment after one was approved and ...

A Louisville mother turned her grief into motivation by becoming a respiratory therapist at the same hospital where her son ...

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

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

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

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

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

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