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 ...

For the past two years, 4-year-old Cade Jobsisʼs family has been raising money to allow scientists to restart clinical trials ...

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 ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

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

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

Gene editing has moved from theory to bedside with a speed that would have seemed impossible a decade ago. A new wave of ...

For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...

U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy, to the federal newborn screening list to enable ...