History and namesake
- Tay-Sachs disease gets its namesake after two people: Warren Tay and Bernard Sachs. Warren Tay was a British ophthalmologist who described that one of his patients had a cherry-red spot on their eye's retina (1881). Bernard Sachs, a neurologist from New York, had works that first described cellular changes occurring within Tay-Sachs disease. Sachs also observed a number of cases, and recognized that most infants with Tay-Sachs were of Eastern European (Ashkenazi) Jewish origin. Dr. Shintaro Okada and Dr. John S. O'Brien published their discovery of the Hexosaminidase A deficiency in Tay-Sachs disease in August 1969. Almost two years following, in May 1971, the first Tay-Sachs community screening was held in Bethesda, Maryland. In the late 1980's the gene that causes Tay-Sachs was identified, and 75 different mutations were found by the 1990's. Today, there are more than 100 mutations reported by all ethnic groups.