Please provide your email address to receive an email when new articles are posted on . The FDA granted orphan drug designation and rare pediatric disease designation for a treatment for autosomal ...

A McGill-led team of researchers have made an important discovery shedding light on the genetic basis of a rare skeletal disorder. The study, published in Nature Communications, reveals that a defect ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system. Patients with these conditions have facial abnormalities, such as cleft ...

Skeletal muscle channelopathies and myotonic disorders constitute a heterogeneous group of neuromuscular conditions caused by mutations that impair the function of ion channels, including sodium and ...

UCI scientists have discovered a new treatment for the most common skeletal muscle disorder for people 50 and older, officials said. A new study shows that lithium chloride, normally used to treat ...

PARIS, FRANCE (November xx, 2021) – Genethon, a unique non-profit gene therapy R&D organization founded by the French Muscular Dystrophy Association (AFM-Telethon), announced today publication in the ...

LOUISVILLE, Ky. (WAVE) - Many inspiring stories are shared during the Olympics about people overcoming adversity. A little girl from LaGrange is doing the same, and her family is choosing to educate ...