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.

An overview of TTR stabilizers and gene-silencing therapies for treating hereditary transthyretin (hATTR) amyloidosis.

Find out why cynical people may be more likely to develop dementia.

Why red blood cells are so important, and how these cells are affected by sickle cell disease.