In today’s modern society, there are over 10,000 diseases that are said to be monogenic, meaning that only one gene is involved in the disease ("Genes and Human Disease"). Many of these diseases are incurable and can prove to be terminal, one of which is Huntington’s disease. Not only is this disease physically detrimental to the well-being of the individual, it can also affect other loved ones such as offspring. An example of such issues is exemplified in Alice Wexler’s memoir Mapping Fate: A Memoir of Family, Risk, and Genetic Research, where she describes the struggles and challenges her and her family must face as her mother is diagnosed with Huntington’s disease.
As mentioned earlier, Alice Wexler’s mother, Leonore, is diagnosed with Huntington’s disease while she is in her 50s. Huntington’s disease is a genetically transmittable disease where nerve cells in certain parts of the brain deteriorate ("Huntington's Disease"). There is no cure for the disease, but there are certain methods of treatment that can help slow down the progression of the disease ("Huntington's Disease"). Ultimately, this disease can lead problems such as loss of speech, memory, and even the ability to walk ("Genes and Human Disease"). Despite the lack of a cure for the disease, scientists have discovered the genetic defect that causes it. Normally on the 4th chromosome, the CAG codon sequence, which codes for the amino acid glutamine, is repeated between 10 to 28 times ("Huntington's Disease"). However, somebody who is diagnosed with Huntington’s disease has the same codon sequence repeated around 35 to 120 times ("Huntington's Disease"). Ultimately, Alice’s mother passes away, causing her sister, Nancy, and her father, Milton, to begin biomedical res...
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...hat come along as a result. Ultimately, the story format of the book and the first person narrative of Alice’s troubles appeals to the emotions of the reader (pathos), and emphasizes the significance of Huntington’s disease not just on her life, but on the lives of others. Hopefully one day, a cure will be found, eliminating all of the ethical issues and pain caused by this horrible disease once and for all
Works Cited
"Genes and Human Disease." World Health Organization. World Health Organization, n.d. Web. 09 Nov. 2013. .
"Huntington's Disease." NCBI. U.S. National Library of Medicine, 30 Apr. 2011. Web. 09 Nov. 2013. .
Wexler, Alice. Mapping Fate: A Memoir of Family, Risk, and Genetic Research. Berkeley: Univ. of California, 1996. Print.
Genetic Family History Assessment All nurses, no matter where they practice, need to have proper training in genomics and genetics to provide the best information to clients regarding recognition, prevention, and/or treatment of diseases (Thompson & Brooks, 2011). Genetic family history can help clients discover the unique patterns of health and illness within their family. In this paper, I will complete a Genetic/Genomic Nursing Assessment using the information found in Kaakinen, Coehlo, Steele, Tabacco, & Hanson’s text (2015) in Box 7-7 (p. 198). I will identify three generations of a family, analyze the genetic health risks, and consider nursing strategies for this family. The woman featured in my genetic assessment will be referred to as LG.
Smith, Stephanie. (2013, August 11). Henrietta Lacks’ family finally gets say in genetic destiny. Can we control our own?.CNN. Retrieved from http://www.cnn.com/2013/08/07/health/henrietta-lacks-genetic destiny/index.html?
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
The mindset of every living organism is to survive and reproduce. As such, it may be surprising to hear that diseases actually plays a crucial role in the survival of our predecessors. In the book Survival of the Sickest, Dr. Sharon Moalem discusses the role these hereditary disorders played in keeping our very ancestors alive. Three examples mentioned in the reading selection include hemochromatosis, diabetes, as well as favism. All the diseases I mentioned had a specific aspect, to which I found particularly appealing. In the case of hemochromatosis, I found it intriguing how the author used his own life to draw a connection between the two traits. Dr. Sharon Moalem lost his grandfather to hemochromatosis and later was diagnosed with the
Multigenerational Transmission process is looking at how family dysfunction is passed on through generations. One common dysfunction passed on from generation would be teenage pregnancy. When looking throughout generations, Fantasia, her mother and grandmother all got pregnant at the age of 16. Due to the struggles of teenage pregnancy both Fantasia and her mother had to drop out of high school. Putting education on the back burner to care for family is a common theme with the women in Fantasia’s
WORLD HEALTH ORGANISATION, 1997. Tabular list of neurological and related disorders. In: WORLD HEALTH ORGANISATION, ed. Application of the International Classification of Diseases to Neurology. Canada: World Health Organisation, p. 153.
The symptoms of Huntington’s disease increase slowly and last until death. Chorea is one of
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...
Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the only important manifestation of the disease but several non-motor symptoms are also associated with this disease.[1]
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.
Boston: Bedford/St. Martin,. 304 - 316 mm. Print. The. Newman, Stuart A.. “The Hazards of Human Developmental Gene Modification.”
...hich inherited traits, such as those for genetic disease, can be tracked over generations. Throughout out the course of human development, scientists will continue to find new new ways to help the human race through the discovery of the human gene inside of each of us, its uses, as well as complications, that can help the survival of our species.
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
Dementia can occur in relation to many different illnesses. Some of the most common of which are Huntington’s Disease,
It is estimated that between .1 and 10 % of people who suffer from Huntington's