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There was also a second physician named Bernard Sachs who recognized the familial nature of the disorder and also observed numerous cases. He witnessed that Tay Sachs disease was most common in the European, Jewish origin. Â· When was Tay Sachs disease discovered?Tay Sachs disease was discovered in the year of 1880.
Mutations in the Tay-Sachs Chromosome. Tay-Sachs disease is caused by mutations in the HEXA gene. More than 95 mutations that cause the disease have been identified. These mutations reduce or eliminate the activity of the enzyme beta-hexosaminidase A, preventing the normal breakdown of GM2 ganglioside in the brain and spinal cord.