Sunday, May 2, 2010

Tay-Sachs Disease Foundation Awarded $208,000

Tay-Sachs Disease Foundation Awarded $208,000 On Hot Topics --- Tay-Sachs Disease Foundation Awarded $208,000. Starts from Tay-Sachs disease, also known as GM2 gangliosidosis or Hexosaminidase A deficiency, is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease, it presents a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.

Tay-Sachs Disease is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay-Sachs Disease is rare. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common.

The disease is named after British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital, New York who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887.

The Cure Tay-Sachs Foundation (CTSF) has recently awarded over $208,000 in three research grants to study the degenerative neurological disease. Tay-Sachs, which is always fatal in children, occurs in the absence of the enzyme Hex A, which allows fats to build up in brain cells, eventually destroying them.

The grants will pay for studies on Jacob’s sheep, a rare breed affected with a Tay-Sachs-like disease; stem-cell research in mice with Sandhoff disease, a variant of Tay-Sachs; and research on the role inflammation plays in the brains of Sandhoff-affected mice.

CTSF is a Cleveland nonprofit organization that raises funds to find a treatment or cure for Tay-Sachs. The gene mutation causing the disease is much more common in Ashkenazi Jews, French Canadians, and Louisiana Cajuns, with a 1 in 27 carrier rate. Irish Americans have a 1 in 50 risk of carrying the gene, compared with 1 in 250 in the general population.

Since its founding in June 2007, CTSF has raised $1.2 million for Tay-Sachs research, awarding over a half-million dollars in grants. Tax-deductible donations can be made online at, or checks can be mailed to 12730 Triskett Road, Cleveland, Ohio 44111.