Tay Sachs Disease Research Paper

Cate Lee
5th Period
Honors Biology
Mrs. Presley

Tay Sachs Disease A mutation (or mutating) is changing a structure of a gene. Tay Sachs disease is a lethal mutation inherited as an autosomal recessive disorder, it is also known as Hexosaminidase A deficiency, GM2-Gangliosidosis, or TSD. Tay Sachs is an extremely tragic disease that has no cure. Tay Sachs was named after and discovered by english ophthalmologist Warren Tay and Jewish-American neurologist Bernard Sachs. Tay and Sach’s development and research of the disease was around the 1860’s and 1870’s. As said earlier, Tay Sachs is an autosomal recessive disorder which means two copies of the mutated gene needs to be present in order to inherit the disease. If both parents are carriers
Infants can be diagnosed if a doctor spots a cherry-red spot in the retina of their eye, it will most likely be Tay Sachs. There is a 50% chance in every pregnancy of having a child being a TSD carrier. Most people who suffer from Tay Sachs disease is discovered to have the mutation around six months when symptoms start showing. Ashkenazi Jews are especially affected by Tay Sachs. In the United States, approximately 1 out of 27 Jews are a Tay Sachs carrier. In the non-jewish population, about 1 out of 250 people are Tay Sachs carriers. Another ethnic group affected are the people with ancestry from Ireland, they are at a risk of 1 out of 50 people. To see if you have TSD or if you are a TSD carrier you can undergo a blood plasma assay that can see differences in Hex A activity. You can basically get the test whenever you want or you might be recommended one if severe symptoms start showing. After women becomes pregnant, a test can be done to see if the baby has Tay Sachs, and whether or not the fetus has TSD there can be counseling for the parents and counseling about therapeutic pregnancy termination. There is therapy available for people with Tay Sachs that is aimed towards making the child
A neurologist or a geneticist often make the diagnosis. Late Onset Tay Sachs disease doesn’t always shorten the diagnosed patient’s life span unlike infants or children with Tay Sachs. When an adult is diagnosed with Late Onset Tay Sachs disease they should: understand Tay Sachs and their diagnosis, keep updated in recent research, and talk to their doctor about local support groups and counseling. As far as a cure goes for Tay Sachs disease, there is none. There is also no treatments available either, but there is therapy and some medications that can help with the symptoms such as seizures. Other therapies include gene therapy, stem cell therapy, bone marrow transplant, and pharmacological or molecular chaperone therapy. Current research for Tay Sachs Disease is developing more therapies and doctors are also researching on how to “stop or slow down disease progression, reverse damage, and timeline to market.” Something that is helpful to the diagnosed person and their family is a support groups. Support groups can help you with emotional support and give you encouragement and advice. Here are some disease organizations that can provide support groups: NTSAD, Genetic Alliance, March of Dimes, National Organization for Rare Disorders. Tay Sachs is