What is Tay Sachs disease?
Tay Sachs is a rare, inherited disorder that destroys nerve cells in the brain and spinal cord. The gene that the mutation occurs in is called HEXA. The protein that is produce from this gene is lysosomal beta-hexosaminidase. Tay Sachs was first discovered in 1881 when a patient came in with a bump next to their eye. Tay Sachs mainly affects the Eastern European Jews. Today, 1 in every 27 Jews in the US will be a carrier of the disease. In the world, one of every 250 will be a carrier of the disease. Some of the symptoms that come with Tay Sachs are muscle weakness, problems with coordination, rhythmic muscle contractions, or stiff muscles. Also, you may have difficulty swallowing, hearing loss, seizures, vision loss, or impaired voice. There is no cure for the disease, but it can be treated by gene therapy or enzyme replacement therapy which will only slow down the process of Tay Sachs. Most people with Tay Sachs will end up dying. If both parents are carriers and their child inherits the defective Hex-A gene from each of them, the child will have Tay Sachs Disease. There is some current research of them doing a Cord Blood Transplant which means that while the baby is still in the womb after 12-14 weeks of pregnancy, they will inject a donors healthy blood stem cells directly into the fetus's abdomen. The idea is that the healthy genes will hopefully replace the genes that aren't working.
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