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

CRISPR gene editing has now been used to treat a genetic defect in a child, giving hope to parents of children with rare inherited diseases. While hopes are high, clear communication about the ...

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

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

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: ...

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

Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains ...

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.

A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020. A ...

Add Yahoo as a preferred source to see more of our stories on Google. Tiffany Fransen holds onto her husband, Alex, as he carries her to her car at their family's home in Highland on Wednesday, Dec.