Huntington’s disease is a rare inherited neurological disorder that progressively affects movement, cognition and mental health due to a genetic mutation ...

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

This Rare Disease Day, observed on Feb. 28 worldwide, the American Kidney Fund is committed to improving the understanding of ...

Alström syndrome affects roughly one in 500,000 people. In May, Fort Worth will host a symposium of researchers looking into treatments.

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

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

The EMA’s positive opinion on Kygevvi marks a turning point for patients with TK2d, an ultra-rare genetic muscle disease previously managed only with supportive care.

Researchers identified the earliest case of a genetic disease with the help of DNA: ...

In 1963, researchers unearthed two Stone Age skeletons that were buried in an embraced position in a cave in Italy. Now, DNA ...

Pam Kowalcyzk and her daughter have PKU, a rare disorder that prevents the body from processing protein ...