Tay-Sachs disease is a rare hereditary disorder that occurs when the body lacks an enzyme that can break down fatty ...
When we can play any part in supporting other families, it’s a tragic gift that allows us to continue to parent Havi.” For ...
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 ...
Jewish Genetic Screening Awareness Week is very important in educating the public and advocating for widespread screening.
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.