Tay Sachs Disease News and Research

RSS
Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells.
Determining personal risk for genetic disorders essential

Determining personal risk for genetic disorders essential

NYU professor conducts genetic screening at academic campuses in Boston

NYU professor conducts genetic screening at academic campuses in Boston

New technique to treat metabolic disorders in babies while still in the womb

New technique to treat metabolic disorders in babies while still in the womb

NIH awards $3.5-million grant to Tay-Sachs Gene Therapy Consortium for research on fatal genetic disorders

NIH awards $3.5-million grant to Tay-Sachs Gene Therapy Consortium for research on fatal genetic disorders

Carrier screening for spinal muscular atrophy should be offered to all couples

Carrier screening for spinal muscular atrophy should be offered to all couples

One injection of gene therapy spreads through brain in animal study

One injection of gene therapy spreads through brain in animal study

Stem cells delay neurodegeneration in the brain

Stem cells delay neurodegeneration in the brain

Prenatal diagnostic tests have low risk of miscarriage

Prenatal diagnostic tests have low risk of miscarriage

Infants with Krabbe disease saved by cord blood stem cells

Infants with Krabbe disease saved by cord blood stem cells