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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.
TayâSachs disease is caused by a genetic mutation in the HEXA genes on chromosome 15. It is inherited from a person's parents in an autosomal recessive manner. The mutation results in problems with an enzyme called beta-hexosaminidase A which results in the buildup of the molecule GM2 ganglioside within cells, leading to toxicity.