"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

It also allowed the team to diagnose the younger of the pair with acromesomelic dysplasia, Maroteaux type (AMDM), a rare genetic disorder affecting the growth of bones. This is the earliest evidence ...

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Despite widespread misconceptions, eating disorders aren’t a choice, they’re serious, potentially life-threatening conditions. While social and environmental factors do influence someone’s risk of ...

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

The addition of PacBio to the iHope network will further expand diagnostic access worldwide DAMASCUS, MD, UNITED ...