Tay-Sachs Disease Tay-Sachs Disease was named for Warren Tay and Bernard Sachs, two doctors working independently. In 1881, Dr. Tay, an ophthalmologist, described a patient with a cherry red spot on the back of his eye; the presence of this red spot has become a clear signal for the diagnosis of TSD. Several years later, Dr. Sachs, a New York neurologist, described the cellular changes caused by TSD, observed the hereditary nature of the disease, and …
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…no effective method of treatment. Research is being conducted that utilizes gene therapy to try to repair the mutated Tay-Sachs gene, but attempts have been largely unsuccessful (15). For now, carrier screening and prenatal testing are encouraged for all couples who may be at risk. TSD can also occur in babies who are not born to couples in high-risk populations, so testing and education must be expanded to put an end to Tay-Sachs disease for good.