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Tay-Sachs Disease


Unfortunately, a clinically available treatment regimen currently does not exist. Some researchers have attempted to develop novel treatments for Tay-Sachs disease, but these attempts have not proven successful in most cases. Many laboratories around the world are investigating the utility of enzyme replacement therapy to deliver Hex-A to the brain. This technique provides only temporary therapy and the protective blood-brain barrier blocks larger molecules like enzymes from entering into the brains bloodstream. Bone marrow transplation has been unsuccessful at reducing the damaging effects. In the future, researchers hope that gene therapy may cure Tay-Sachs disease. Since the defective gene responsible for Tay-Sachs is known, gene therapy is currently being investigated. In gene therapy, cells that have been infected with viruses carrying normal genes are injected into the body. The healthy genes would then produce enough hexosaminidase A to breakdown the accumulating gangliosides. Researchers, however, must solve many technical difficulties before gene therapy for Tay-Sachs can be used. Information regarding Tay-Sachs disease can be obtained from the National Tay-Sachs and Allied Diseases Association.



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Rimoin, David, L. Emery and Rimoin's Principles and Practice of Medical Genetics. London; New York: Churchill Livingstone, 2002.


Bach, G., J. Tomczak. N. Risch, J. Ekstein, Sheldon L. Glashow, and Leon M. Lederman. "Tay-Sachs Screening in the Jewish Ashkenazi Population: DNA Testing is the Preferred Procedure." American Journal of Medical Genetics 99 (2001): 70-75.

Chamoles, N.A., M. Blanco, D. Gaggioli, and C. Casentini. "Tay-Sachs and Sandhoff Diseases: Enzymatic Diagnosis in Dried Blood Spots on Filter Paper: Retrospective Diagnoses in Newborn-screening Cards." Clinica Chimica Acta 318 (2002): 133-137.

Kaback, M., J. Miles, M. Yaffe, H. Itabashi, H. McIntyre, M. Goldberg, and T. Mohandas. " Hexosaminidase-A (Hex A) Deficiency in Early Adulthood: A New Type of GM-2 Gangliosidosis." American Journal & Human Genetics 30 (1978):31A


National Tay-Sachs & Allied Diseases Association. "Tay Sachs Disease" June 17, 2002 [cited December 30, 2002]. <http://www.ntsad.org/pages/t-sachs.htm>.

University of Cambridge. "Our Own Galaxy: The Milky Way" National Institute of Neurological Disorders and Stroke. August 21, 2000 [cited December 30, 2002]. <http://www.ninds.nih.gov/health_and_medical/disorders/taysachs_doc.htm>.

National Center for Biotechnology Information. "Tay-Sachs Disease." December 13, 2002 [cited December 30, 2002]. <http://www.ncbi.nlm.nih.gov/disease/Tay_Sachs.html>.

Bryan Cobb

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Science EncyclopediaScience & Philosophy: Swim bladder (air bladder) to ThalliumTay-Sachs Disease - Background, Genetic Basis And Clinical Manifestations Of Tay-sachs Disease, Testing And Diagnosis, Treatment