New research shows that about 10 percent of severe cases of congenital heart disease are caused by genetic mutations that are absent in the parents of affected children.
Scientists have used next-generation DNA sequencing tools to identify a mutation in a gene that underlies one of the most common forms of severe hypertension.
A rare skin disease provides the first example of a disease-causing mutation that spontaneously reverts, producing healthy skin.
New research reveals how genetic and environmental factors influence an organ that has not traditionally taken much of the blame for diabetes and cardiovascular disease.
For the first time, scientists have diagnosed a genetic disease by completely sequencing all of a patient’s genes.
Researchers have identified two molecular keys that help release salts from cells, keeping them alive in the ever-changing salinity of their environment.
Researchers have discovered three genetic factors that could help doctors identify people who are at the greatest risk for developing a brain aneurysm.
HHMI researchers identify rare mutations in three genes that contribute to blood pressure variation in the general population.
HHMI researchers identify a genetic mutation that causes early onset coronary artery disease.
Researchers have identified the first gene mutation associated with Tourette syndrome.
Two proteins underlie a novel metabolic pathway that governs blood pressure in humans.
HHMI researchers have located a gene that causes immunoglobulin A nephropathy.
HHMI researchers identify first molecular link to pregnancy-related hypertension.
Salt is poison for people with high blood pressure. Genetic studies are beginning to clarify who is at risk and why.
Researchers with the Howard Hughes Medical Institute at Yale University led a team that found the genetic cause at the heart of Liddle's syndrome.