Scientists have uncovered genetic variants that help to explain why some children with mild COVID-19 go on to develop a ...

Duchenne, one of the most severe forms of muscular dystrophy, affects about one out of every 3,600 boys. The inherited rare ...

"The grief spiral and the odyssey of trying to figure out what the problem is takes a really big toll on families." Baton ...

Huntington’s disease poses a threat to the brain—the core governing system of sensation, intellectual ability, nerve-related ...

The Hawkers are among 13,500 families, recruited from 24 regional genetics services across the UK and Ireland, to the Deciphering Developmental Disorders (DDD) study. The study is a collaboration ...

In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly.

Experts highlighted that Pakistan is one of the leading countries for cousin marriages in the world, resulting in genetic ...

The Huntington's disease (HD) mutation eventually causes a fatal brain disease in adulthood, but a new study finds that early in life, children with the HD mutation have bigger brains and higher IQ ...

UCSF Benioff Children's Hospital Oakland is enrolling patients in an innovative clinical trial that seeks to cure sickle cell disease. The trial is the first in the U.S. to apply non-viral CRISPR-Cas9 ...

ALL, certain drugs work for some patients who relapse, but these drugs are not effective for all patients who relapse.

Causes: Butterfly disease refers to a group of rare, inherited diseases that cause the skin to be very fragile and to blister easily. There are around 30 subtypes of butterfly disease, and these are ...