Advances in our understanding of the molecular biology of Tay-Sachs disease and other Jewish genetic disorders have resulted in the identification of many of the “founder” mutations present in ...

Pre-pregnancy tests and counselling are crucial for identifying health risks ensuring fertility and preparing for a healthy ...

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 ...

Watching someone go through this is heartbreaking." Tay-Sachs disease, the more common of the two disorders, typically manifests within the first year of life, progressing quickly and often ...

The sickle cell gene may have been brought to Africa by people migrating from Southern Arabia and India, or it may have arisen by mutation ... Carrying Tay-Sachs disease may protect against ...

A mutation that turned one specific A into a T results in the most common form of sickle cell disease. Getty Images Our genetic code is represented by a string of As, Cs, Gs and Ts. Tay-Sachs ...

In a groundbreaking study, researchers at McMaster University have identified a potential treatment for Sandhoff and Tay-Sachs diseases—two rare, often fatal lysosomal storage disorders that cause ...