Tay-Sachs is a rare genetic disorder that slowly destroys nerve cells in the brain and spinal cord and this disease effects millions of people (Tay-Sachs GHR). Tay-Sachs can’t be spread as it’s a genetic disorder. It is caused by a genetic mutation in the HEXA genes (Tay-Sachs GHR). People who have Tay-Sachs have problems with the enzyme called beta hexosamidase A and this enzyme is supposed to clean up the buildup of the molecule called GM2 ganglioside within cells but if it doesn’t it leads to
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perform genetic assays. These tests detect changes in chromosomes‚ genes‚ and proteins to help identify the likelihood of a child being born with different genetic conditions. Personally‚ I believe this test proves to be highly beneficial because it educates couples who plan to have a family on whether or not there are genetic risks that could ultimately have a negative effect on their future children. For example‚ here in Eastern Quebec a disease that is quite prevalent is Tay-Sachs disease.
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Tay-sachs Disease Genetic disorders happen every day‚ children spend everyday in the hospital. Tay-Sachs is named from Warren Tay (1843-1927) and Bernard Sachs(1858-1954).Tay-Sachs disease is a rare hereditary disease caused by a genetic transfer that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells‚ producing central nervous system degeneration. Tay-sachs symptoms are diagnosed according to what causes Tay-sachs. The disease is inherited doctors after diagnosis
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07-08‚ 2.6-01-09 Tay - Sachs disease Cherilyn Mitchell Western Governors University In reading this case study and other articles online‚ I find this a heartbreaking disease and am thankful that I have had the healthy children that I have. There are several key interdisciplinary members that I would place on the team for this family. I would utilize an obstetrician‚ geneticist‚ social worker and clergyman or priest. I feel there are many other additional appropriate team members that could
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Creative Title: Tay-Sachs‚ the saddest of diseases Introduction: Tay-Sachs disease (TSD) is a genetic condition affecting male and female infants. The life expectancy of children with TSD is just 3-4 years old. Unfortunately‚ it is always fatal and there no known cure. What is the cause of the disease and how is it inherited? Tay-Sachs disease is hereditary‚ meaning it is inherited from family members. TSD is the result of an autosomal recessive gene‚ meaning‚ meaning that two copies of an abnormal
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Tay-Sachs Disease Tay-Sachs disease is a rare inherited autosomal recessive disorder first discovered in 1881. It is a disease that is found in many populations‚ but commonly affects the populations of the Ashkenazi Jews. The disorder is caused when there is an absence of enzyme called beta hexosaminase A that is found on chromosome 15. The most common mutation occurs in mostly 80 percent of Tay-Sachs patients is the four base pair addition (TATC) on exon 11 and a G to C inversion
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A rare and fatal disease‚ Tay-Sachs is characterized as one of the devastating neurodegenerative disease. Children afflicted with Tay-Sachs “lose motor skills and mental functions” eventually becoming “blind‚ deaf‚ mentally retarded‚ paralyzed...Tay-Sachs children usually die by age five” (“Tay-Sachs Disease”). A diagnosis of infantile Tay-Sachs is akin to a death sentence; the only form of care would be comfort for death. Tay-Sachs is passed on genetically from parent to child and‚ as it is an autosomal
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Genetics Case Study on Tay-Sachs WGU Genetics Case Study on Tay-Sachs The Trosacks have just been informed that their unborn child has Tay-Sachs disease. Now they need help‚ information‚ support‚ and assistance to help and understand what this is‚ what issues they may encounter‚ what choices they have‚ and what help may be available. Let us create a game plan. We will start with an interdisciplinary team (IDT). For the trosack’s
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Tay-Sachs The disease Tay-Sachs was discovered by two men‚ the first one was a British ophthalmologist named Warren Tay who described the disease in 1881. The second one was a New York neurologist named Bernard Sachs who described the cellular changes and the genetic nature of the disease in 1887. Tay-Sachs is a rare disorder where a child who inherits the gene from both parents Specialists claim that Tay-Sachs disease is developed by children who lack a protein that is necessary to dissolve a fatty
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Tay-Sachs disease is an autosomal recessive disease that affects the lysosome storage in cells. Over time‚ the disease deteriorates the functions of the body leading to blindness‚ deafness‚ dementia‚ and recurrent convulsions in the terminal stages. Unfortunately‚ its main victims are children‚ who often show the first signs and symptoms at around 6 months old and usually do not live past the age of 5. There is also a juvenile and late-onset form that may not appear until the second or third decade
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