Globally, more than 350 million people live with rare diseases, most of them caused by a misstep hidden within their genes.

Luoma, 57, inherited a rare genetic disorder called facioscapulohumeral muscular dystrophy, which causes the muscles of the ...

Scientists found a genetic link between autism and DM1, where repeat DNA sequences disrupt brain gene splicing. This sheds ...

The antimalarial drug mefloquine could help treat genetic diseases such as cystic fibrosis, Duchenne muscular dystrophy, as ...

Researchers from University College London (UCL) are aiming to develop potential treatments for congenital muscular dystrophy ...

Jordan McLinn has been an advocate since childhood to add add Duchenne muscular dystrophy to Indiana’s newborn screening ...

Mike Pence in 2015 as he signed Indiana’s Right To Try Law, which allows terminally ill patients to access experimental ...

It's been nearly two years since Elevidys, a gene therapy for Duchenne MD developed by Sarepta Therapeutics, was approved by ...

New research has uncovered a genetic connection between autism spectrum disorder (ASD) and myotonic dystrophy type 1 (DM1), a rare neuromuscular disease.