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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.
Research in the late 20th century demonstrated that Tay-Sachs disease is caused by mutations on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported.These mutations reach significant frequencies in several populations. Adult/Late Onset TSD. 2  A rare form of the disorder, known as Adult Onset Tay-Sachs disease or Late Onset Tay-Sachs disease (LOTS), occurs in patients in their 20s and early 30s. 3  LOTS is frequently misdiagnosed, and is usually non-fatal.