A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens  via Unsplash During an amniocentesis test, a long, thin ...

I spotted this rook with a very unusual beak in Galway city lately. Despite the unusual shape it seemed very healthy and was ...

Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...

Danon disease is a rare but serious cardiomyopathy that drastically reduces life expectancy. Male patients infrequently live ...

It's been nearly three years since controversial Chinese biophysicist He Jiankul was released from prison for gene-hacking ...

Treatment options include medications, dietary changes, lifestyle adjustments, and in severe cases, surgical correction.

TLC’s Jay & Pamela introduced many viewers for the first time to osteogenesis imperfecta type 3, the super-rare genetic ...

Aug. 29, 2024 — For decades, scientists have dreamt of a future where genetic diseases, such as the blood clotting disorder hemophilia, could be a thing of the past. Gene therapy, the idea of ...

Craniofacial defects encompass a range of deformities affecting the skull, facial bones, and soft tissues, often resulting ...

Recurrent meningitis is a rare but serious condition, occurring in about 5% of cases of community-acquired meningitis.

Birth defects can be caused by genetic environmental or combined factors but some can be prevented with the right measures ...

Sir Keir Starmer has signalled that he would block any attempt to ban first cousin marriage, a practice which remains ...