As fatal familial insomnia progresses, patients completely stop sleeping and enter a coma-like state that results in death ...

Dilated cardiomyopathy (DCM) is a heterogeneous disorder that is familial in approximately 30% of cases. Although several genes have been identified that can cause familial DCM, molecular analyses ...

Familial hypercholesterolemia results from gene mutations approximately halving the number of functional LDL receptors in heterozygotes and a greater lack in homozygotes. Reduced receptor-mediated ...

A rare genetic condition that causes sleep difficulties, memory loss and involuntary muscles twitching has no cure and gets ...

Tryngolza (olezarsen) has been approved by the U.S. Food and Drug Administration as an adjunct to diet to reduce trigl ...