Tay sachs research paper


tay sachs research paper

a little bit overemphasized, although if it is going to stay, it should mention treatments for adult-onset Tay-Sachs, which are actually in clinical trials, as opposed to being largely theoretical. Description, tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells in the. Carriers do not show any signs or symptoms and therefore are virtually harmless. It might be seen in individuals of the disease, but it is not a commonly used diagnostic tool. This could also us a ref "Until the 1970s and 1980s, when the disease's molecular genetics became known, the juvenile and adult forms of the disease were not always recognized as variants of TaySachs disease." Ref 6 is a primary research paper and review are. A mention of enzyme replacement (doesn't work gene therapy and substrate reduction could all be done there. Other Diagnosis and Management Resources (2 links). Miglustat is also being investigated as a possible treatment, which works with an antagonistic effect on the glucosylceramide synthase enzyme. Others are free to comment. Obstetrics and gynecology clinics of North America.

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To date, this research approach has been futile but current researchers continue to examine the mechanism and consider connecting words for compare and contrast essay administration techniques of the enzyme that could be effective. Catalog of Genes and Diseases from omim (1 link). New England Journal of Medicine. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. Ebe 123 report 17:42, (UTC) Yes, that section is either pure theory or attempted treatments, and I would argue has no place in the article. The treatment aim would be to provide a replacement of the hexa enzyme that can play the role of the non-functional enzyme of individuals with the disease. A genetic counselor is usually a healthcare professional that possess an advanced degree. This accumulation of fat is what causes the symptoms of Tay-Sachs. Added a way to disambiguate. They will have experience in Tay Sachs disease and be able to provide knowledge and information of tests and protocols in managing this disease. However the main body of article misleadingly says; " A mutation unrelated to the predominant Ashkenazi/Cajun mutation, consisting of a long sequence deletion, occurs with a similar frequency in families with French Canadian ancestry the error is repeated in the 'Epidemiology' section.

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