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

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

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 ...

Stuart Orkin and Swee Lay Thein shared a Breakthrough Prize in Life Sciences for their research on genetic causes of sickle ...

A major international study led by Flinders University has identified a genetic contributor to juvenile glaucoma.

Differences in the physical shape and wiring of the brain can directly contribute to the development of attention and social ...

A man who grew up with a rare but painful disorder that causes noncancerous tumors to grow on his face is raising awareness ...

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 ...

Metabolic dysfunction-associated steatotic liver disease (MASLD) affects nearly one in three adults around the globe. It starts when fat builds up inside the liver’s cells. Over time, this buildup can ...