Scientists at UT Southwestern Medical Center have traced a rare premature aging condition in a young Malaysian man to a ...

In a bid to better understand, and potentially treat, a host of conditions that affect early cognition, neurodevelopment and ...

DANVILLE, Pa. – A “genomic-first” approach to screening for rare genetic disorders —identifying specific genetic variants and then studying associated traits and symptoms — can identify these ...

In a bid to better understand, and potentially treat, a host of conditions that affect early cognition, neurodevelopment, and ...

India's first national biobank for rare Lysosomal Storage Disorders has been established in Ahmedabad, Gujarat. The ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

"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 ...

Veronica Paulus is a former STAT intern supported by the Harvard University Institute of Politics. Complex regions of the human genome remained uncharted, even after researchers sequenced the genome ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...