Dr. Rebecca Ahrens-Nicklas and Dr. Kiran Musunru crafted a bespoke treatment that has successfully corrected the genetic ...

A teenager who lived in southern Europe around 12,000 years ago has become the earliest person in history to receive a ...

AMD is one of the rarest documented genetic disorders. Only around 10 million people in the world carry the altered NPR2 gene ...

Over the next two years, the planned funding will be allocated to projects that have received some FDA feedback as well as emerging efforts.

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

The crisis facing rare disease and disability families in Connecticut is caused by systemic underinvestment, administrative barriers, and policy choices.

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

Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

In its standard definition, the word "rare" describes something that doesn't happen very often. So families who receive a diagnosis of a "rare genetic disease" understandably feel isolated and that ...

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from a rare genetic disease earlier. Their findings were published recently in ...