Tay-Sachs:
Research Initiatives
The Cure Tay-Sachs Foundation is committed to funding research that holds promise for treating and curing Tay-Sachs disease (TSD). Recognizing the complexity of these research concepts, we aim to bridge the gap by providing easy-to-understand summaries, detailed explanations, and links to in-depth research papers.
Understanding Tay-Sachs Disease (TSD)
TSD is associated with two primary issues: insufficient Hex-A enzyme and an excess of GM2 waste. Hex-A, produced in the brain and nerve cells, breaks down GM2 waste. When mutated, as in TSD, the cell doesn’t recognize Hex-A, hindering waste breakdown and leading to waste accumulation and cell death. TSD severity is directly related to the amount of Hex-A a person has.
Overcoming the Blood-Brain Barrier
The main hurdle in treating and curing TSD is devising therapies that can cross the blood-brain barrier. Viable therapies must either cross the barrier or circumvent it, which proves to be challenging. Our focus is on major research initiatives that show potential in advancing the search for a cure.
