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 ...

In one particular variant of this disease known as mucopolysaccharidosis I (MPS I), a deficiency of the enzyme alpha-L-iduronidase causes a build up of GAGs in tissues and organs, which in turn ...

When we can play any part in supporting other families, it’s a tragic gift that allows us to continue to parent Havi.” For ...

Carrying Tay-Sachs disease may protect against tuberculosis (TB). In Ashkenazim populations, up to 11 percent of the people are Tay-Sachs carriers. During World War II, TB ran rampant in Eastern ...

Fabry disease and GM2 gangliosidosis (also known as Tay-Sachs disease), but the company's earlier assessment of venglustat as a "pipeline in a pill" is starting to look shaky. The phase 2/3 STAGED ...

Diagnosing Down Syndrome, Cystic Fibrosis, Tay-Sachs Disease and Other Genetic Disorders A genetic screen can potentially diagnose more than 1,200 genetic disorders and chromosomal abnormalities.