Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Huntingtons disease case study
Huntingtons disease case study
Huntingtons disease case study
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Huntingtons disease case study
Huntington’s Disease
Rahma Suhyinni Mumuni
Biology 3
Mrs. Laurencig
05/16/14
Huntington’s Disease
About 30,000 people in the United States have Huntington's Disease, affecting men and women equally among all ethnic and racial backgrounds (helpguide.org). While its more common in adults, juvenile Huntington's occurs in one-sixth of all cases (helpguide.org). Huntington's Disease (HD) is a devastating, hereditary disease that slowly decreases the affected person's capability to walk, talk and reason. Sooner or later, the person with HD becomes completely dependent upon others for his or her care. Huntington's Disease affects the lives of entire families immensely: emotionally, socially and economically. In this research paper, the pathophysiology, manifestation, and medical management of this disease will be examined.
Pathophysiology
Huntington's disease is a progressive brain disorder that is caused by a single defective gene on chromosome 4 — which is one of the 23 human chromosomes that carry a person’s entire genetic code (alz.org, 2013). This defect is dominant, w...
The video, “Cracking the Genetic Code,” brought for forth some great interest in knowing that the medical field and technology has advanced so much that we can know our own genetic code and if we will or develop a certain disease. But aside from the interest, the video also brought forth some heartbreaking moments for the patients in the video that have had their lives turned around due to medical illness. For example, Megan Sullivan, who was a fully functional young woman and started showing symptoms of Huntington’s disease during her college years, which reduced her functioning to where she can barely even speak for the interview. It’s hard seeing somebody that young go through those huge obstacles, or in the case of Catherine Ellton, who, in a way, was forced to speed up her life in a
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
If Nathaniel Wu did not have the allele for Huntington’s disease, he would undeniably be the perfect scientist for the position in the eyes of the IPC. Wu is a 30-year-old microbiologist at one if the best research laboratories worldwide. After a series of interviews, the IPC was convinced his determination was not only factor that qualified him more in comparison to the other candidates; they realized that his potential “[is] likely to result in the type of discoveries for new drugs and treatments,” a goal that has not been reached since Dr. Peters’s incident. Wu is also known as a creative researcher and a hard worker, meaning that hiring him will likely result in a dramatic increase of earnings for the IPC. Considering that Huntington’s disease will most likely deteriorate Wu’s abilities, many may argue that it is not worthwhile to hire Wu; it is foreseen that the symptoms of Huntington’s disease begin to appear as soon as th...
Many people, like myself, after watching an episode of “The Michael Jay Fox Show,” started to be come curious as to what exactly this disease is. You ask yourself; What is this disease? What causes it? Can it be passed down from generation to generation? Is there a treatment? What would your life be like suffering from this? Through my research on Parkinson’s disease, I am determined to answer these questions. I hope to have a better understanding on this disease, and how it affects the lives of patients that I might see in a hospital.
Parkinson’s Disease is a progressive neurodegenerative disorder in the community resulting in significant disability. This global problem has consumed the lives of many. “Approximately 60,000 Americans are diagnosed with Parkinson's disease each year, and this number does not reflect the thousands of cases that go undetected” (Statistics on Parkinson’s, 2014). Once this unbiased disease has begun to affect the patient it is a lifelong battle. Parkinson’s disease has a tremendous impact on the patient as they battle for their independence and plead for their acceptance into their own community setting. People living with Parkinson’s disease struggle with tremors, bradykinesia and rigidity. It takes a skilled nurse to be able to care for the patient suffering with Parkinson. With education, support and exercise the patient will be able to feel some sense of hope for their future. The purpose of this paper to is educate the community about Parkinson’s disease and the impact on the patient and on the nurse caring for the patient.
Parton, A., Malhotra, P., & Husain, M. (2004). Hemispatial Neglect. J Neurol Neurosurg Psychiatry, 13-21.
In 1993 a consortium of researchers who worked on the DNA samples from families in the Lake Maracaibo region of Venezuela, an area with a high density of HD and significant consanguinity, reported the successful discovery of the gene responsible for the occurrence of this disease, present in chromosome 4 and named it as IT15 (Interesting transcript #15). IT15 later called as the Huntingtin gene (HTT) [2]. HTT is ~10 kilobases (kb) long and translated into a protein of 3144 amino acids with anticipated molecular mass of 348 kDa. Huntigtin protein is expressed in in human and all mammalian cells, where brain and testis has the highest concentration; liver...
Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...
In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.
Nurse’s play a very important role in the delivery of care to an older person and in complex disease such as Parkinson’s disease, the care provided by a nurse is vital for both the patient and the family of the affected person. The aim of this essay is to understand briefly about Parkinson’s disease and associated issues and the role of the nurse in the management of the condition.
Dementia is a significant health issue in Australia (Australian Institute of Health and Welfare 2012) (AIHW 2012). Whilst Dementia primarily affects older members of the community, it can also affect young people and has a significant influence on overall health and quality of life (AIHW 2012). The type of Dementia is a determinant in the severity and development of symptoms in individuals (Department of Health 2013) (DoH, 2013). The gradual, progressive and irreversible nature of Dementia has a considerable social and physical impact not only on the individual, but also on family and friends.
It is estimated that between .1 and 10 % of people who suffer from Huntington's
Huntington’s disease is named after George Huntington. This disease genetically is an inherited disorder that damages the mind and nervous system. This may affect actions of the body for example like movement, the ability to reason, awareness, and thinking and judgment. It can also affect their behavior. The word genetic is that the disorder is delivered on by each generation of offspring by special codes called genes(Patient.Co.Uk, 2011). Genes are relocated from a parent to offspring and is held to decide some characteristics of the children (Patient.Co.Uk, 2011).
Miller, Marsha L. “HD Research – Past and Future.” Huntington’s Disease Society of America. 2011. Web. 23 March 2012.
Huntington’s disease is a progressive neurological disorder that is caused by an autosomal dominant mutation in the HTT gene. There will be no change in the allele frequencies because this treatment only has an effect on the phenotype, not the genotype; it does not