Among them was David Liu, a biochemist at the Broad Institute and Harvard University in Cambridge, Massachusetts. Liu isn’t a ...

Huntington’s disease is a rare inherited neurological disorder that progressively affects movement, cognition and mental ...

On February 2, Wave Life Sciences Ltd. (NASDAQ:WVE) said it regained full rights to WVE-006, a potential treatment for ...

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

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

Prior to Catherine O'Hara's death, she spent her whole life she battled an ongoing condition called situs inversus. The ...

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.

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

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

When you have a rare disease, managing doctor's appointments, prescriptions and care plans is difficult enough — figuring out what Medicare will (and won't) cover often adds another layer of stress.

When her newborn was diagnosed with Phenylketonuria (PKU), Jewelia Belcher tells PEOPLE it felt like her “world was crashing down” ...