Recent evidence shows elevated circulating long-chain ceramide levels predicts atherosclerotic cardiovascular disease (ASCVD) independently of cholesterol. Although targeting ceramides signaling may provide therapeutic benefits beyond the treatment of hypercholesterolemia, the underlying mechanis...

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.

Ehlers-Danlos syndrome Type VIII is a dominantly inherited connective tissue disorder that is distinguished from other forms of EDS by significant early-onset p...