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Tay Sachs disease is a genetic anomaly which results in deterioration of mental and physical abilities that begins around six months of age and usually results in death by the age of four. Towards the end of the 19th century, two physicians named Warren Tay and Bernard Sachs attempted to explain the condition as well as provide diagnostic criteria in order to set it apart from other similar neurological conditions. While the cause of the disease as well as its genetic background were mostly unknown both Tay and Sachs identified cases within families. The Jewish families were among the first to be recognized as affected by the disorder. The Tay Sachs disease was labeled as strictly Jewish and as a result contributed to the definition of the Jews as a pure racial group.

There were many scientists who in the early 20th century believed the disease was reserved for Jewish individuals only. Once the cases started to appear in other ethnic or racial groups the scientific community questioned the methodology of diagnosis or even ascertained that the patients must have genetic ties to the Jews. The fact that up until WWI there was a general dislike of immigrants, especially those coming from east and southern Europe made matter only worse. As many immigrants who came into the US at the end of the 19th and the beginning of the 20th centuries were Jews from those regions the categorization of Tay Sachs as a Jewish disease further contributed to the negative stereotypes and perceptions of the Jews as being inferior.

Scientific Methodology

As far as the Europe goes the scientific community started to move away from the racial theories around the period of WWII and adopted molecular biology, biochemistry, and genetics. After the renaissance of Mendel’s work during the first part of the 20th century the scientists started to apply it when it came to tackling of the genetic diseases.

By the 1930s it was believed that Tay Sachs syndrome was caused by a single defect and that it was autosomal recessive disorder. During the same period the theory that Tay Sachs was an exclusively Jewish anomaly was abandoned. Towards the end of the WWII biochemistry started to gain momentum when the process of the metabolic pathways was first comprehended and accepted. It was also understood that genes and their protein products regulate the functions of cells by controlling the activity of the enzymes in metabolic pathways. During this period the biochemists identified some mutations of the genes but their understanding was still fairly limited. By the 1960s phenylketonuria was explained as a lack of production of a liver enzyme, which in turn results in physical and psychological retardation. Similarly, in 1969 John S. O’Brien proved that the Tay Sachs disease results from an anomaly in the crucial enzyme. By the 1970s there had been numerous clinical trials, which succeeded in developing pre-natal diagnosis, carrier screening, and newborn testing.

Impact on Jewish Communities

There have been millions of Jews who were screened as carriers of Tay Sachs during the 1970s. Israel embraced the new scientific developments and offered complimentary screening and genetic counseling for individuals trying to conceive children. In addition, Israeli scientists became world leaders in genetic research, and the Jewish people one of the most studied populations. The fact that both the scientists and the participants are of the Jewish background made genetic research easy to carry out as many ethical concerns were lessened. On the other hand, there are individuals who interpret the results of the genetics studies in a way as to view the Jews as more susceptible to genetic and neurological diseases compared to other populations. Not surprisingly, there have been many individuals and groups advocating for omitting of the race or ethnic identity as a factor in the research. In addition, the research performed on the Jewish communities sparked numerous debates. For instance, some scientists believed that the individuals who were carriers of the Tay Sachs could have been protected from tuberculosis in the middle ages.

Treatment and Future Research

There have been many attempts to come up with a proper way to treat individuals with Tay Sachs disorder but so far they have not been successful. For instance, the enzyme replacement therapy aims to recreate the missing enzyme and place it into the affected person, much like the insulin is injected into individuals suffering from diabetes. However, the enzyme is far too big to pass through blood. When it comes to gene therapy, the idea is that the debilitating gene be taken out and replaced by a healthy one. However, the researchers who are investigating in this particular field believe they are far away from making it possible. The hematopoetic stem cell research, a form of genetic therapy, has been successful with some genetic diseases but so far not with Tay Sachs.

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