when one sphingolipid cannot be broken down into another, leading to a build-up of a specific substrate in cells. Research has managed to show which enzymes are lacking for each disease: Tay-Sachs lacking hexosaminidase A, Niemann-Pick disease lacking sphingomyelinase, Fabry’s disease lacking alpha-galactosidase A,…
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Hello, I am truly sorry for the discovering of of the disease that your newborn has. Tay-Sachs disease is a very fatal disease of the central nervous system. In infants, it is a progressive disease that is unfortunately always fatal. Most infants have nerve damage starting in the utero, in most cases they start to develop symptoms from age 3 to 6 months. Infants who develop the disease often only live to a typical lifespan of 4 to 5 years old. Symptoms are deafness, progressive blindness, decreased…
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February 2009 Tay - Sachs Disease To live life with a disease or not? Unfortunately we cannot make that decision in today’s society. Everyday a new life is brought into this world inheriting a genetic disorder that has minimal treatments. Tay – Sachs disease is among one of the hundreds disorders that affect communities and while it is more common in a certain part of the world it still could affect an individual that least expected it. Warren Tay (1843-1927) and Bernard Sachs (1858-1944) were…
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TAY-SACHS DISEASE SHUNTERRIA S. SHERMAN KEISER UNIVERSITY GENERAL BIOLOGY 1010 DR. GHISLAINE GUYOT JACKSON OCTOBER 8, 2012 TAY-SACHS DISEASE What is Tay-Sachs disease? It is a rare disease that is inherited. Tay-Sachs is caused by having too many fatty build up in the tissue and nerve cells in the brain. This build- up of substances kills or destroys the cells resulting in mental and physical problems. The disease takes place when the body lacks hexosaminidase A, a protein that helps…
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TAY-SACHS DISEASE 1 Today’s nursing care and knowledge base is light years away from where it all began. Nursing has developed along with the healthcare system as a whole to now be on the brink of science and genetic technologies. We will focus on nursing care and genetics throughout this case study. It is imperative as a nurse to stay abreast of new trends and knowledge regarding genetics as it may affect…
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Zimmerly where he recommended that due to her advanced maternal age, she should have a chorionic villus sampling performed. When the test results came back, the Trosack’s were devastated to find out that their unborn child was affected by the Tay-Sachs disease. When interviewing the family, Rita blames herself for working so hard that it affected the baby, while Peter is angry and in denial believing that the test results are wrong. Also in the interview, Rita states that her paternal grandparents…
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Tay Sachs is a rare disorder passed from parents when the babies are about 6 months. In children, the destructive process begins in the fetus early in pregnancy. Children who have Tay-Sachs disease are at high risk of lung infections that cause breathing problems and frequently accumulate mucus in their lungs. Without hexosaminidase chemicals called ganglioside start to create up nerves in the brain and it destroys brain cells. Screening includes your partner for the mutation HEXA.A defective gene…
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existed for centuries, and despite the progressive views that modern society so often prides itself on, racial prejudices persist to this day. The idea that some races are genetically predisposed to be weaker, stronger, or more or less susceptible to disease endures in modern medicine with the introduction of race-specific drugs such as BiDil even after scientific research, cited by Jonathan Marks in “Human Evolutionary Biology,” indicated that such medications are no more effective than their generic…
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genes. Firstly, the Founder Effect takes place when non-diverse groups of organisms move to a different place. Secondly, autosomal recessive diseases can occur from the organisms moving to a different place. Lastly, the results of the Founder Effect can appear with in the small and new population, giving the new population an increased amount of diseases. For example, when a diverse population is sampled at random, it is possible for the random sample to not represent…
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Canavan Disease Report Biology Class Grade 11 Introduction Among the many deadly genetic diseases in our world today the Canavan Disease is one of the most tragic ones of all as it’s a disease that causes ongoing damage to the nerve cells in the brain and doesn’t allow the infected to survive long. This disease was discovered in 1931 by Myrtelle Canavan, a researcher (1). The Canavan Disease’s gene was first discovered…
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