Gaucher's disease

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  • Case Study Of Gaucher's Disease

    Gaucher’s disease if you haven’t heard of it already is a metabolic disorder one of the most common for lysosomal diseases and it is inherited. It can also be carried and not known by the individual, a carrier only has a single gene mutation that is associated with the disorder. In order actually have Gaucher’s diseases an individual must have two mutations in the GBA gene; one from each parent. Gaucher’s is when the metabolism and storage of fats is irregular; this can be quite harmful due to the fact that there is a deficiency of the enzyme glucocerebroside (GBA) which is located on chromosome 1q21 and encompasses 11 exons. Which an individual’s body will not break down or store the fatty substances correctly. This could cause glucocerebroside…

    Words: 1778 - Pages: 8
  • Gaucher's Disease Research Paper

    Gaucher’s disease is a rare genetic disorder in which when a person lacks of enzyme called glucocerebrosidase. The genes that are involved are GBA(glucosidase, beta, acid) genes. The GBA genes are the ones that provide instructions for making enzyme which is called beta-glcocerebrosidase. There are 4 types of Gaucher’s disease. Type 1 Gaucher’s disease is the most common form of this condition. Type 1 Gaucher’s disease doesn’t really affect the brain or the spinal cord (central nervous system)…

    Words: 773 - Pages: 4
  • Genzyme Corporation Case Analysis

    Union 8 Threats 8 Increased competition 8 POTER’S FIVE FORCES ANALYSIS 9 Bargaining power of buyers 9 Threat of Substitutes 10 Bargaining power of supplier 11 Threat of new entrants 11 PESTEL ANALYSIS 12 Political/ Legal 12 Economic 12 Social 12 Technological 13 Environment 13 Legal 13 RECOMMENDATIONS 13 REFERENCE 14 TABLE OF FIGURES Figure 1 Genzyme 's Stock Price 2009 5 Figure 2 Poter 's Five Forces 8 Figure 3 Pricing and Revenues (in Millions) for Drugs Approved to Treat Gaucher’s Disease 9…

    Words: 981 - Pages: 4
  • Benefits Of Genetic Engineering

    As it states in Source A “ Even without a ban, it will be upper-class parents who can afford pricey genetic technologies. “ this evidence shows that if their was no limits to genetic engineering then the rich people would become even more elite because not only would they have money but they also would not be plagued with the common genetic disease that the rest of the population would have to deal with. Also in Source A it states “Sooner or later, as the most glaring genetic liabilities will…

    Words: 1643 - Pages: 7
  • The Ethics Of Euthanasia In The Victorian Era

    There are other key reasons that also lead people to become unaccepting of death, one of which being advancements in modern medicine and science. As mentioned above, common illnesses and diseases such as pneumonia, that once proved to be fatal for many, no longer play a large risk due to modern medicine. People today are not as quick to die from illnesses as they once were, instead there are cures available, or at least treatments that can hold off death for a number of years. This results in…

    Words: 704 - Pages: 3
  • Major Causes: The Death Of A Child

    viewed as mechanistic when it is viewed as working like a machine with different components or parts. The mechanistic body has no interaction with the world or environment surrounding it, therefore the mechanistic body is functioning independently. According to Marcum (2004), the human body is viewed as a material, mechanized objet that is reducible to a collection of physical parts. From this perspective, the patient’s body is “a machine composed of individual body parts, which can be fixed or…

    Words: 1657 - Pages: 7
  • Biomedical Model Advantages And Disadvantages

    the environment. Repudiate psychological, environment and social influences. And the three health languages are;  Diagnosis: this investigates any disease or illness through medical procedures by observation of signs and symptoms and this is notice by the client’s history and test. In order for the professional to get the result you will need to through…

    Words: 1034 - Pages: 5
  • Neurology Case Study

    In the late 1900s scientists were able to describe a rare congenital genetic disease called “1p36” for the first time. Later, in 2001, a girl named Sonia was born; two weeks after her birth, she had heart failure and her parents had to take her to the hospital due to low vital signs; that was the first time doctors noticed that there was something wrong with her. A couple of days later, they realized that not only her heart wasn’t functioning properly, but she had low muscle tone, and seizures.…

    Words: 1129 - Pages: 5
  • Confusion Between Euthanasia And Other End-Life Decisions

    Euthanasia is one of the most common argument in our society. Euthanasia, the act to end one’s life painlessly who is suffering from incurable or painful disease. However, Euthanasia is illegal in many countries because many people refer it as assisted suicide. Euthanasia can be referred as painless and happy death without going through suffering. According to Wikipedia, Euthanasia was first used in medical context by Francis Bacon. Nevertheless, I supported Euthanasia because every patient has…

    Words: 1043 - Pages: 5
  • Uc Davis Medical Center Internship Reflection

    My internship is at UC Davis Medical Center in the Clinical Social Services Department. This semester, the interns are doing rounds in the hospital. What that means is that each week, I am in a different unit of the hospital shadowing a Social Worker and taking cases if I feel comfortable. With that being said, I have not had the opportunity to have a client for a long period of time. Next semester, I will have to chose one or two units that I want to work in and that is where I will have my own…

    Words: 1504 - Pages: 7
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