The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the nation’s medical research agency — making important discoveries that improve health and save lives.

Genetics is the study of heredity, the process of a parent passing certain genes to their children. A person’s appearance — height, hair color, skin color, and eye color — is determined by genes.

A birth defect is a problem that happens while a baby is developing in the mother’s body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.

Clinical trials are research studies that test how well new medical approaches work in people. Each study answers scientific questions and tries to find better ways to prevent, screen for, diagnose, or treat a disease. Clinical trials may also compare a new treatment to a treatment that is already available.

List of all genetic and birth defects with details on each topic.

Since 1983, NORD has been a national steward and a steadfast partner helping those who battle and care for rare disease feel seen, heard, supported and connected. We’re a full-service, mission-driven nonprofit reimagining a future where every person with a rare disease, and their families live their best lives.