Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...

Some 25 million Americans live with rare genetic diseases — that’s nearly 1 in 13. More than half are children. The path to discovering what the condition is, and finding treatments, can take years.

CUP is leading the project in Punjab in collaboration with the AIIMS, Bathinda; Guru Gobind Singh Medical College and ...

Short QT syndrome is a genetic disease that leads to sudden cardiac death at a young age. Mutations in the SLC4A3 gene, which ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

"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 ...

Until recently, even the most advanced gene therapies could only be given after a child was born—often racing against time to prevent irreversible damage. In the first part of this series, we explored ...

Many risk factors for cardiovascular conditions exist, including inherited factors. Now, a validation study suggests a new ...

International biotech company Roche Pharmaceuticals and Medical Excellence Taiwan (MET) yesterday announced the launch of the Asia Pacific Hub for Rare Disease Innovation and Treatment, signing a ...