The main causes of the genetic disorders are consanguineous marriages – inbreeding, and the high rate of, insufficient ...

Our goals are to expand access to genomic testing and develop cutting-edge genomic testing to help more families get answers ...

Recent breakthroughs and regulatory shifts in gene editing might be the key to moving from treating the symptoms of diseases ...

It turns out genetics might not play as big of a role in how long you live as previously thought.

Global partnerships that embed scientific research into clinical care are revolutionising the diagnosis and treatments for children with rare genetic diseases, according to a new report.

ITF, IntraBio and Orchard are among the companies that have won FDA nods in the past year for Duchenne muscular dystrophy, ...

A new approach reveals genetic interactions that contribute to heart defects. Scientists at the Icahn School of Medicine at ...

High-throughput genetic testing identifies 25% more rare disease risks, empowering families with early detection & prevention. Learn more this World Rare Disease Day!

As key members of the Johns Hopkins Department of Genetic Medicine, genetic counselors help patients with rare diseases ...

A newborn has been diagnosed with a genetic disease so rare that she's only the sixth person diagnosed in Ohio, ever.

Marking Rare Disease Day, Strand Life Sciences, a subsidiary of Reliance Industries and a leading genomics research company, ...