Tay-Sachs Disease and Sandhoff Disease

The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase.

This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides.

Unfortunately there is no cure or treatment currently available for Tay-Sachs and Sandhoff. Researchers of the diseases are working hard to find viable cures to help these children and their families.



Tay-Sachs is a genetic disorder caused by a defect in the HEXA gene which produces the beta-hexosaminidase A enzyme. The enzyme is important as it breaks down harmful waste products in the brain and without it these build up and cause extensive damage to the brain’s nerve cells. Physically, an individual diagnosed with Tay-Sachs will suffer a relentless deterioration of mental and physical abilities.


Sandhoff disease is very similar to Tay-Sachs but the defected gene, called HEXB, does not allow the production of two enzymes (beta-hexosaminidase A and beta-hexosaminidase B). The disease also results in premature death in a sufferer and the signs and symptoms are the same as in Tay-Sachs.


There is currently no cure for Tay-Sachs or its associated diseases. Children affected with Tay-Sachs have no hope unless we help raise funds to aid the research on the way. A cure for Tay-Sachs will also mean a cure for over 70 other Lysosomal Storage Diseases as well as other neurological conditions such as Parkinson’s, Alzheimer’s and Multiple-Sclerosis.



Support | Research | Awareness

Providing support services and creating a community for the families and carers affected by these conditions.

Alongside our counterpart organisations, we strive towards providing a cure for these relentless diseases, by supporting the dedicated researchers who are focused on innovative treatment methods.

Creating awareness of these conditions to help promote carrier screening, prevention and early diagnosis.

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