A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an ...

When two defective gene variants combine, normal protein function can sometimes be restored.

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

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 ...

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

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 ...

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.

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

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