SOX17 mutations are linked to severe pulmonary arterial hypertension often diagnosed in childhood, though some develop the ...

Researchers develop a single genome-editing strategy to treat multiple disorders caused by nonsense mutations, promising ...

It took a while for the science to basically catch up to that suspicion.” In these types of “recessive” conditions, the ...

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and developmental delays. Although some symptoms overlap among these rare ...

A rare but serious clotting disorder linked to certain COVID-19 vaccines and natural adenovirus infections has puzzled scientists for years.

Every person has genetic mutations. Most have no harmful effects, but some can lead to disabling disorders. Duke researchers recently identified a gene mutation for a disorder that is commonly ...

"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 ...

February 27, 2009 — Researchers have identified a mutation in THAP1 that cosegregates with primary torsion dystonia in affected members of 3 Amish-Mennonite families, according to an article published ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...

Scientists have identified several new genetic mutations linked to a rare neurodegenerative disease called CSF1R-related disorder (CSF1R-RD). The disease is gaining recognition as the use of genetic ...