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This is a gene based disease

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Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Infants with this disorder typically appear normal until the age of 3 to 6 months, with their development slows and muscles used for movement weaken.

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Tay-Sachs disease is very rare in the general population. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsilvania, and the Cajun population of Louisiana.

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A defective gene on chromosome 15 (HEX-A) causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells.

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The Cure Tay-Sachs Foundation is dedicated to funding the on-going research needed to find treatments and a cure for Tay-Sachs Disease. Once the cure for Tay-Sachs has been found - and we will find it! - we will dedicate our efforts to promoting carrier-testing and Tay-Sachs awareness initiatives.

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Nathan's Story; Tay-Sachs Disease in the Irish Population

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This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.