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?

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

the role of patient registries and hears a moving story about the rare genetic disorder Tay-Sachs disease. Joining me for this instalment of Health Heroes are Geneviève Bonnélye-Fesnien ...