Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique ...

Melinda Collier told Newsweek that "you can't and shouldn't chalk up someone, let alone a child, as a lost cause." ...

Rare diseases are genetic disorders that affect a small proportion of the population. Despite their rarity, they can be a ...

Scientists from UC Davis Center for Surgical Bioengineering, the MIND Institute and UC Berkeley’s Murthy Lab are developing ...

Dr Sudheendra Rao N R from the Organization for Rare Diseases India reveals that approximately 70 million are affected by ...

Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life Getty KJ Muldoon was diagnosed with severe carbamoyl phosphate ...

Jason Selvey died six years before his son, Daniel, due to the rare genetic illness Alagille Syndrome ...

While genetic testing may be diagnostic, ordering the tests requires physicians to consider the possibility of the illness first. Treatments Curative treatments are rare but available for diseases ...

Doctors at Gandhi Hospital successfully performed a complex heart surgery on a 25-year-old woman with Bardet-Biedl syndrome.

The genetic modification therapy market presents key opportunities in developing specialized treatments for rare, inherited, ...