What is Tay-Sachs Disease Tay-Sachs disease is an autosomal recessive genetic disorder that was first witnessed by Waren Tay in 1881. The disease is named after Waren Tay and Bernard Sachs, both contributed to the discovery of the disease in the late 1800’s. Tay witnessed a “cherry-red” spot on the on the retina of the eye, which is a spot observed when the fovea’s center is surrounded by a white halo. Bernard Sachs witnessed that the disease was mostly prevalent in the Ashkenazi Jewish community, 1 in 27 members carries the gene. It can also be found in the French-Canadian communities in Quebec, and also the Amish community of Pennsylvania. Tay-Sachs also may have a heterozygous advantage due to the heterozygotes showing a slight protection
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Heterozygote advantage is one theory, stating that the heterozygotes of the population has a selective advantage such as would be with sickle cell anemia in an area with lots of malaria cases [1]. Reproductive compensation, the second theory, is based around the thought that parents who lose a child due to Tay-Sachs compensate later by having more children than they normally would have before [8]. The last theory and the one that has been getting more recognition for possibly being the real reason, or as close as possible, is the Founder effect. The hypothesis of the Founder effect is that happens when a small community isolates from a large community and effectively cuts the gene pool down to a sub set and there is a significant lack of genetic variation …show more content…
Management is the only option when it comes to Infantile Tay-Sachs. Patients receive support for managing symptoms and helping to prolong life, receiving medications and feeding tubes once swallowing is impossible. There is a small solution to help adult Tay-Sachs, in 2011 a medication called Pyrimethamine has been used to increase beta-hexosaminidase activity effectively slowing the progression of the disease[2]. Among the communities of the affected there are measurements to help relieve the incidence rate of the disease. Some communities screen couples before conception to determine if they are carriers or able to conceive without incident [4]. If both parents are carriers then the resulting children has a 1 in 4 chance to contract the disease. If two carriers do decide to have children they can do an in vitro program to look at the eggs and implant the healthy eggs while the diseased are discarded [3].
Future
Heterozygote advantage is one theory, stating that the heterozygotes of the population has a selective advantage such as would be with sickle cell anemia in an area with lots of malaria cases [1]. Reproductive compensation, the second theory, is based around the thought that parents who lose a child due to Tay-Sachs compensate later by having more children than they normally would have before [8]. The last theory and the one that has been getting more recognition for possibly being the real reason, or as close as possible, is the Founder effect. The hypothesis of the Founder effect is that happens when a small community isolates from a large community and effectively cuts the gene pool down to a sub set and there is a significant lack of genetic variation …show more content…
Management is the only option when it comes to Infantile Tay-Sachs. Patients receive support for managing symptoms and helping to prolong life, receiving medications and feeding tubes once swallowing is impossible. There is a small solution to help adult Tay-Sachs, in 2011 a medication called Pyrimethamine has been used to increase beta-hexosaminidase activity effectively slowing the progression of the disease[2]. Among the communities of the affected there are measurements to help relieve the incidence rate of the disease. Some communities screen couples before conception to determine if they are carriers or able to conceive without incident [4]. If both parents are carriers then the resulting children has a 1 in 4 chance to contract the disease. If two carriers do decide to have children they can do an in vitro program to look at the eggs and implant the healthy eggs while the diseased are discarded [3].
Future