In 1881, British ophthalmologist, Warren Tay detected a “cherry red spot” in the macula of one year old child with physical and mental developmental delay. A little bit later, in 1896, American neurologist, Bernard Sachs witnessed extreme swelling of neurons in autopsy from affected children. He also noticed that the condition which is causing this swelling runs mostly in Jewish families. So both doctors were describing same disease, but not until 1930, the substrate that was causing “cherry red spot” and neuronal swelling was identified as a ganglioside and disease was recognized as inherited error of metabolism. In 1960, structure of ganglioside was discovered and it was named GM2 ganglioside. …show more content…
On a Sunday in May 1971, more than 1,800 young adults of Ashkenazi Jewish ancestry in the Baltimore and Washington, D.C., areas were voluntarily screened for carrier status. The success of the program demonstrated the efficacy of voluntary screening of an identifiable at-risk population. Within a few years, these screening programs had been repeated among Ashkenazi Jews throughout the United States, Canada, Western Europe, and Israel.
Tay-Sachs disease has become a model for the prevention of all genetic diseases. In the United States before 1970, the disease affected about 50–70 infants each year in Ashkenazi Jewish families. About 10 cases occurred each year in infants from families without identifiable risk