Tay-Sachs disease is a rare hereditary disorder that occurs when the body lacks an enzyme that can break down fatty ...

(RNS) — Some 25 years ago, a friend of mine and his wife whose little boy had been diagnosed with Tay-Sachs disease visited our home. A relatively rare genetic disorder that is less so among ...

A genetic screen can potentially diagnose more than 1,200 genetic disorders and chromosomal abnormalities. If you were a medical geneticist, how would you pick the best test for your patient?

David Rimoin, a medical geneticist and the founding president of the American College of Medical Genetics and Genomics, passes away at age 75. NIH’s plan to reduce indirect funds faced immense ...