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 ...

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 ...

Scientists from Brigham and Women’s Hospital have now identified a new protein that may contribute to the disease.

Jewish Genetic Screening Awareness Week is very important in educating the public and advocating for widespread screening.

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 ...

Accumulation of fat molecules is detrimental to the cell. Researchers have made a breakthrough in understanding how our cells manage to stay healthy by recycling important fat molecules. Their study ...

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.