What’s Tay-Sachs disease?

Tay-Sachs is a genetic disease caused by a missing enzyme. Cynthia Tifft, MD, PhD, director of NIH’s Pediatric Undiagnosed Diseases Program, describes who develops the disease and how it’s diagnosed in infants.

Three examples of IRDs, and how different genetic eye diseases cause different types of vision loss.

Learn about these rare and very serious metabolic disorders.

Learn how these vitamins support a healthy brain and nervous system.

Desmoid tumors are noncancerous and do not metastasize, but they can invade nearby tissues and structures.

This severe infection can lead to long-term complications—and even death—if not treated quickly and effectively.