One to two out of every 100 newborn babies are born with a Congenital Heart Defect (CHD), yet the exact cause remains unclear ...

Mitochondrial diseases are severe, often untreatable, and they leave human cells unable to grow normally without outside help. A new study published in Nature Metabolism now shows that a single gene ...

Birth defects affect 3% of pregnancies in the United States. Screening and diagnostic tests during pregnancy can identify many birth defects. Parents can take critical steps to help prevent certain ...

Retrotransposons are pivotal in human genome evolution, driving structural variation and regulatory innovation while influencing health and disease.