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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

History of Tay-Sachs Disease

Warren Tay

The disease is named for Warren Tay (1843-1927), a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye.

Bernard Sachs

It is also named for Bernard Sachs (1858-1944), a New York neurologist whose work several years later provided the first description of the cellular changes in Tay-Sachs disease. Dr. Sachs also recognized the familial nature of the disorder, and, by observing numerous cases, he noted that most babies with Tay-Sachs disease at that time were of Eastern European Jewish origin. Today, Tay-Sachs occurs among people of all backgrounds.

HexA Deficiency Discoverd

In August 1969, Dr. Shintaro Okada and Dr. John S. O'Brien published the discovery of the Hexosaminidase A deficiency in Tay-Sachs. Nearly two years later in May 1971 the first Tay-Sachs community screning event took place in Bethesda, Maryland.

Gene Identity

The gene that causes Tay-Sachs was identified in the late 1980's and by the mid-1990's, over 75 different mutations had been identified. Currently there are over 100 mutations reported from all ethnic groups.

 

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