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Biology presentation on genetic disease

Kady B

on 1 March 2013

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Transcript of Tay-Sachs

Tay-Sachs By Christine, Kady, Kea, & Pamela

Period 3 Tay-Sachs Impact on Society Tay-Sachs is common in people of Ashkenazi Jewish heritage. It is now spreading to French-Canadian communities of Quebec, people of Cajun heritage, and partly in the United States. Jewish people were first recognized as affected in 1971 when carrier testing started. Israel was the first country to offer free genetic screening and couples counseling for families with Tay-Sachs, which led to research. Number of Cases per Year This condition is rare. There are about 16 cases diagnosed each year in the United States. Carrier Statistics Irish-Americans - 1 : 30
Ashkenazi Jews, French Canadians, Louisiana Cajuns - 1 : 27

General Population - 1 : 250 people Causes of Tay-Sachs Tay-Sachs is caused by a defect in the HEXA gene on chromosome 15. This gene produces an enzyme that helps break down a fatty substance in nerve cells. Mutations in the HEXA gene disrupt activity of the enzyme resulting in a toxic build up of lipids in the brain and spinal cord. The disease is inherited; it can't be transmitted any other way. the HEXA gene Heritability All people have two copies of the Hex-A gene. If both genes are functional, then a person does not have an irregular build up of lipids and Tay-Sachs. If only one gene is functional, then a person does not have Tay-Sachs, but is a carrier of the disease and may pass it on to their offspring. If a person inherits two faulty genes, then the build up of lipids is not controlled, and Tay-Sachs is the result. Research & Treatment Currently, there is no cure for Tay-Sachs. Doctors try to make the lives of Tay-Sachs patients as easy and comfortable as possible

Researchers are currently studying the defect on the Hex-A Gene, but no progress with a cure has been made Impact and Symptoms on people There are three types of Tay-Sachs Disease:

Infantile TSD
normal until they reach 6 months of age.
their development starts slowing down
usually die by the age of 4
they'll gradually regress
become blind and cognitively impaired
Juvenile TSD
showing symptoms at the ages of 2-10 years old
not able to mentally function well
slurred speech, hand tremors, slow motor performance
Late-onset TSD
start showing symptoms in the ages of 20-early 30's
mostly misdiagnosed
mostly non-fatal
still causes muscle twitching
slurred speech, hand tremors, and slow motor performance
life expectancy is unknown What is Tay-Sachs? Get Involved! There are several organizations to which donations can be made to fund research for a cure to Tay-Sachs. A couple are listed below:
Cure Tay-Sachs Foundation
National Tay-Sachs and Allied Diseases Association

Every year there is a conference in San Diego for the families of Tay-Sachs patients. The conference provides support and connection with other Tay-Sachs families. Visit these websites to make a donation or learn more about how to get involved to help suffering babies, toddlers, teens, and their families cope with difficulties of Tay-Sachs: http://www.curetay-sachs.org/

http://www.ntsad.org/index.php/get-involved Morbidity and Mortality
Rates Tay-Sachs is a rare, recessive genetic disorder in children that gradually destroys the nerve cells in the brain, spinal cord, and nervous system. This usually appears in children who are 3 to 6 months old as their development slows down and their muscles weaken. One way they can be diagnosed is through an eye check. If doctors see a cherry-red spot on the back of their eye, the child will undergo further tests. http://ehumanbiofield.wikispaces.com/file/view/tay-sachs_pedigree.jpg/34189787/tay-sachs_pedigree.jpg http://www.beltina.org/health-dictionary/tay-sachs-disease-symptoms-treatment.html Work Cited National Human Genome Research Institute. “Learning About Tay-Sachs Disease.” National Human Genome Research Institute. National Institute of Health, 17 March 2011. Web. 25 January 2013. http://www.library.cornell.edu/resrch/citmanage/mla

Genetics Home Reference. “Tay-Sachs Disease” Department of Health and Human Services. 17 January 2013. Web. 25 January 2013 http://ghr.nlm.nih.gov/condition/tay-sachs-disease

Kids Health. “Tay-Sachs Disease” The Nemours Foundation May 2011. Web. 25 January 2013.http://kidshealth.org/parent/medical/genetic/tay_sachs.html

Michigan Live. “MacKenzie Frechette, Davis teen with Tay-Sachs Disorder remembered for love shared” Michigan live LLC. 1 November 2011. Web. 25 January 2013 http://www.mlive.com/living/flint/index.ssf/2008/08/mackenzie_frechette_remembered.html

News Medical. “Tay-Sachs Disease Society and Culture.” Creative Common Attribution-Share Alike License. News Medical, 2013. Web.25 January 2013. http://www.news-medical.net/health/Tay-Sachs-Disease-Society-and-Culture.aspx.

National Tay-Sachs & Allied Diseases. “Tay-Sachs Disease.” National Tay-Sachs & Allied Diseases. NTSAD, 2013. Web. 25 January 2013. http://www.ntsad.org/index.php/tay-sachs
DNA Learning Center Cold Spring Harbor Laboratory. “Tay Sachs Disease.” DNA Learning Center Cold Spring Harbor Laboratory. Cold Spring Harbor Laboratory, 2013. Web. 25 January 2013. http://www.ygyh.org/tay/whatisit.htm

Ehow Health. “Signs and Symptoms of Tay-Sachs Disease”. Demand Media, INC, 2013. web. 25 January 2013.

Medline Plus. “Tay-Sachs Disease.” Medline Plus. National Institutes of Health. U.S. National Library of Medicine, 2013. Web. 25 January 2013. http://www.nlm.nih.gov/medlineplus/taysachsdisease.html The Official name of this gene is "hexosaminidase A (alpha polypeptide)" HEXA is the gene's official name. Between 50-100 mutations that cause Tay-Sachs disease have been identified in the gene. The mutations stop or slow down the activity of the Hex-A enzyme. This prevents the enzyme from breaking down lipids in the brain and nerve cells. http://33-mcsd-mac1.domain.mahopac.k12.ny.us/groups/mrscauthers/wiki/be437/images/69cef.jpg Infants who instantly develop Tay-Sachs usually die by the ages of 2 to 4. Children who are older and formed the disease in chronic form die within 2 to 4 years. If they live longer after being in health care, death occurs between 10 to 15 years of age. Adults with Tay-Sachs can live up to 60 years. Morbidity and mortality rates are high. This is Emma. When she was about six months old, her parents began to notice that she wasn't sitting up or rolling over, and she had a lazy eye. They took her to a special eye doctor who spotted a cherry red spot on her eye. After visiting a genetic counselor, Emma's parents discovered that she had inherited Tay-Sachs from her mother, who was a carrier. From then on, Emma needed to be held constantly. Eventually, she stopped focusing on her parents when they talked to her. Sometimes she seemed to laugh, but was actually having seizures. There are many other children like Emma who slowly become immobile and die from Tay-Sachs disease. By donating and volunteering at Tay-Sachs organizations you can help raise awareness and help find a cure for this horrible disease. http://019221f.netsolhost.com/emma.shtml
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