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 ...

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 ...

The treatment uses a modified, harmless virus to deliver healthy genes to a patient’s cells to treat genetic diseases. Read more at straitstimes.com. Read more at straitstimes.com.

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

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 ...

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

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 ...