Leading the worldwide fight to treat and cure
Tay-Sachs, Canavan, GM1 and Sandhoff diseases

What is Juvenile Tay-Sachs?

Juvenile Tay-Sachs disease is caused by the significantly reduced level of a vital enzyme called beta-hexosaminidase. It is the Hexosaminidase A (HEXA) gene in the DNA that provides instructions for making this enzyme. Without the correct amount of the HexA enzyme, a fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation, also called "substrate", causes progressive damage to the cells.

What about research?

Tay-Sachs Disease research is usually performed simultaneously with Sandhoff disease research. This is because these two diseases have a similar underlying biochemical mechanism.

Read more about the Research We Fund here.

Read past NTSAD's Research Reviews here.