Tay-Sachs Disease - Background

Tay-Sachs disease, in its classical form, is a genetically inherited, progressive, neurodegenerative disorder with affected individuals having abnormal brain development. The outcome is a life expectancy of no more than five years of age due to complications related to the disorder. The disease is named after the British ophthalmologist Warren Tay (1843–1927) for his description of a patient having a cherry-red spot located on the retina of the eye and after a New York neurologist, Bernard Sachs (1858–19444), who demonstrated the cellular alterations associated with the disease. Sachs also observed the genetic component of the disorder, while recognizing that most affected babies were of eastern European Jewish descent.