Tay-Sachs Disease: A Genetic Disorder Analysis

I discovered this topic because I was talking with some of my coworkers about the unit three assignment and I asked them if they know of any interesting genetic disorders. I found Tay-Sachs disease to be the most interesting and I never heard of this disorder before this assignment. This topic interest me because it is primarily seen in people of Ashkenazi (eastern and central European) Jewish descent, how it is inherited from one or both parent(s) and the disorder can have a late onset. Parents who child is affected by this disorder, I can only imagine the devastation that they go through with this type of diagnosis and it is heartbreaking.

Tay-Sachs disease (TSD) is a fatal genetic disorder caused by the absence of beta-hexosaminidase-A enzyme, the alpha subunit of the HEXA gene, that results in progressive destruction of neurons, nerve cells, in the brain and spinal cord. The course of

Historically, TSD occurs more frequently among people of Ashkenazi (eastern and central European) Jewish descent. In the Ashlenazi Jewish population, documentation of the disease date back to the 15th century Europe. In the United States, approximately one in 25-30 carries the gene, one in 3,900 are affected after birth. Also, the disease has been reported among people of Irish, Catholic, Italian, and non-Jewish French Canadian descent. It is unknown why TSD is more common in the Asklenzi Jewish population. However, there are several theories that explains the possible reasons as to why the incidence of TSD is higher within this population. In Jewish history, it was strongly encouraged to marry another Jew, so it is possible that incest was occurring because of the small community they were confined to causing a founder effect. Another theory suggests that parents who children dies from TSD will have more children in order to compensate for their loss, which increases the prevalence of the