...and deadly diseases. However, not everyone can say the last years of his or her life were even remotely close to healthy. Losing someone you love and care about to natural causes is sad enough as it is. Losing someone to a disease that progressively incapacitates your mental and physical capabilities is something entirely different. An example of such a malignant disorder is Huntington’s Disease, an inherited, degenerative brain disorder that is now diagnosed in 1 out of every 10,000 Americans. Huntington’s Disease Society of America is a voluntary, non-profit health organization dedicated to facilitate the lives of those who have inherited the disease by promoting and supporting scientific and medical research in hopes of developing a treatment or cure. The purpose of this report is to inform the community about the value and importance of the HDSA’s mission and goals and the impact it will have on the victims of this destructive brain disorder. What is Huntington’s Disease? Huntington’s Disease as defined by the Huntington’s Disease Society of America is “a devastating, hereditary, degenerative brain disorder…[that] slowly diminishes the affected individual's ability to walk, talk and reason.” Essentially, the victim loses capability of all motor skills and causes involuntary muscle movements, leaving them fully dependent of another person. Involuntary muscle movements are neurological abnormalities, meaning they have absolutely no control over any sort of muscle including...
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...Huntington's: The Anticipation that Kills After doing research on the effects of the disorder Huntington’s disease, it is easy to understand what a disease like Huntington’s will do to an individual way of life. Imagine being thirty years old with a good job, a loving spouse, maybe a couple of kids and an all-around pretty good life. Then imagine one day your boss writes you up and sends you home because he/she suspects you of being intoxicated. A person in this situation could, in months and years to come, learn from a simple blood test that he/she is the victim of a genetic disorder called Huntington’s disease. The ramifications of this illness are endless and affect not only the individual with the disorder but entire families and communities as well. At this time there is no cure or even any significantly effective treatment. However, as with many genetic disorders, research is being done in in this day in age that may promise to one day lead us to such treatment or cure. Huntington’s disease is a neurodegenerative or genetic disorder that affects muscle coordination and some cognitive functions, typically becoming noticeable in middle age. It is much more common in people of Western Europe descent than in those from Asia or Africa. The disease is caused by dominant mutation on either of the two copies of a specific gene, located on chromosome 4. The Huntington gene normally provides the genetic code for a protein that is also called Huntingtin. The mutation of the Huntingtin...
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...Huntington’s Disease Personal Reference: Down in the Neurology department sat four family members patiently waiting for what seems to be a never-ending check up. As the doctor’s office door peaked open my mother and aunt both walked out with despairing eyes. When I looked up the doctor was handing my mother a best-known neurologist information card. At that moment silence broke out amongst us, as we knew a whole new life experience was on our hands. At age 34 my Aunt Eve was diagnosed with Huntington’s disease. Background/Introduction: Huntington’s disease historical timeline indicates the first made known observation of the disease was by American physician George Huntington in 1872. Examining the symptoms and condition Dr. Huntington wrote a detailed account defining the hidden facts behind the disease. Yet it wasn’t until 1911 when Charles Davenport made major contributions in acknowledging and understanding the sings, symptoms and heritability of HD. The National Library of Medicine defines Huntington’s disease as a genetic degenerative disorder of neurons due to a defect in one part of the DNA. HD is recognized as a hereditary neurological disorder taking a devastating toll slowly diminishing an individual’s ability to speak, walk and reason. Because HD is a programmed genetic disorder its degeneration of nerve cells results in uncontrollable movements, emotional disturbance, and eventually memory loss. Signs: Early onset signs of HD typically trail...
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...not share Alisha's enthusiasm because he fears that he is a carrier of a deadly genetic mutation. Just five years ago Jackson's mother was diagnosed with Huntington's Disease at the age of 43 and Jackson's grandmother succumbed to the disease at the age of 68. Jackson is an only child and although unconfirmed and heavily denied by his family Jackson is convinced that his mother discovered her ill fate shortly after he was born. Jackson's wife and father do not want him to be tested for the disorder because they fear a positive diagnosis will destroy any life he has now and in the future . Jackson has endured years of watching his loved ones suffer and does not want to pass the disorder on to his children. The purpose of this paper is to define and describe Huntington's disease (HD), explain inheritance patterns, describe the specific gene mutation seen in patients with HD, discuss reproductive issue and outline the ethical and social implications associated with genetic testing. Huntington's disease was named after Dr. George Huntington, who is credited for discovering the hereditary disorder in 1872(Huntington’s Disease Society of America, 2008). HD progressively destroys neurons in the basal ganglia of the brain. This destruction of brain cells causes deterioration of both mental and physical abilities(Huntington’s Disease Society of America, 2008, para. 2). Symptoms of the disease consist of motor, cognitive and behavioral malfunctions. Motor degeneration affects...
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...Huntington’s disease is an inherited disease that causes a breakdown of certain neurons in the brain. Huntington’s disease is a neurodegenerative disorder which causes involuntary movements, emotional disturbance, and cognitive impairment. “Huntington’s disease (HD) is caused by an autosomal dominant pathogenic mutation, resulting in an expanded stretch of 36 or more glutamine residues in the N terminus of the huntingtin (HTT) protein (1)” (Weiss et al., 2012, p.1 ). People who have Huntington’s disease are born with the faulty gene; however, symptoms typically don’t appear until the person reaches middle age. Although in most cases people with HD don’t start to experience symptoms until middle age, some people may start to experience them...
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...Professor 07/26/2015 Chromosome Number Four The purpose of this paper is to explore the association of crisis intervention relative to nursing and genetics related to Huntington’s disease (HD). The focus will touch on several different topics associated with pre-emptive testing, pregnancy, educational barriers, strengths, signs and symptoms related to the potential of having an aneuploidy fetus. Also, the importance of time sensitive decisions during pregnancy, social support for potential results, financial resources and hardship related to testing. Additionally, the potential for impaired early on-set compromised cognitive functioning linked to Huntington’s disease. Finally, incorporating the expanded role of the professional nursing scope, practice, and ethical dilemmas associated with Huntington’s disease. Chorea a Brief History Huntington-Chorea was identified in 1872 as a rare inherited disorder secondary to “Chorea” jerky uncontrolled movements (Mandal, 2014). Chorea is Greek in origin and defined as “dancing in unison” (Merck Manual, 2015). 1872 the jerky movements were thought to be divine intervention or demon possession that required a type of exorcism to expel (Jumreornvong, 2015). Additionally, with the evolution of genetics in 1983 according to the US-Venezuela Huntington Disease Collaborative Research Project an approximate location of the gene was identified (Mandal, 2014). Likewise, in 1993 the precise...
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...significant family issues and can become a financial burden on patients and their family members. These burdens impair the ability of a person to function independently and also have a tremendous impact on his or her relationships and quality of life. The subject of this paper will discuss an overview of dementia, treatments of dementia, how it affects human lives, and also the affect dementia has had on the life of the writer of this paper An Overview of Dementia: How It Has Touched My Life As a child growing up in the early 1970s, the writer of this paper can recall his neighborhood. It was peaceful and had a several people who were known elderly and considered as senior citizens. The writer of this paper also remembers when the adults of the neighborhood would speak of the elderly and tend to talk the most about their strange behaviors. Although this was often the case, the talk of the elderly was only that, and most of the neighborhood people would not speak badly of the old within the neighborhood because their behaviors were believed to be normal. Most would describe the elderly as senile and acting like what most would say, “As old people do.” Modern technology and scientific research and discoveries have proven that the beliefs of people within the early 70s...
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...National Institute Health accomplished mapping of 32,000 genes of the human genome. Gene mapping was a significant research that enabled researchers to focus on gene specific diseases and birth defects. More than 1000 research projects started inward voyage discovery of human kind rather outward exploration of the planets. Clinical research involving human beings have greater potential for risk of misusing the technology. Potential for misusing the genetic research and fear of unknown long term effects on the successive generations have sparked bioethics debates. Like abortion, gene mapping is a very controversial subject and both sides have strong views. For example, should a woman abort the pregnancy based on the abnormal genetic screening results? Genetic technology provides an enormous power within our grips and with this enormous power comes following the ethical standards. Ethical standards should be followed involving human subjects. Genetic screening standards should align with four ethical principles of: • Respect for the human autonomy, dignity, and obtaining informed consent • Genetic screening should cause the minimal amount of harm to the subject • Provides maximum benefit to the subject • Genetic screening should be available to all the patients of a certain population considered high risk for a certain disease or condition Purpose of this paper is to discuss the correlation between genetic screening, four ethical principles, and possibility of integrating ethical...
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...BEL311 ENGLISH FOR ACADEMIC PURPOSES TERM PAPER ALZHEIMER’S DISEASE: NOT JUST A LOSS OF MEMORY Prepared by: XXXXXXXXX (matric no.) XXXXXXXXX (matric no.) Group XXX Prepared for: XXXXXXXXXXXX Date of Submission: July 2011 Introduction Alzheimer's disease, a neurodegenerative brain disease, is the most common cause of dementia. It currently afflicts about 4 million Americans and is the fourth leading cause of death in the United States. Furthermore, Alzheimer’s disease is the leading cause of mental impairment in elderly people and accounts for a large percentage of admissions to assisted living homes, nursing homes, and other long-term care facilities. Psychotic symptoms, such as delusions and hallucinations, have been reported in a large proportion of patients with this disease. In fact, it is the presence of these psychotic symptoms can lead to early institutionalization (Bassiony, et al, 2000). Learning about Alzheimer’s disease and realizing that it is much more that just a loss of memory can benefit the families of those with the disorder as well as society as a whole. This paper is to look at the disorder, as well as to discuss the history, symptoms, diagnosis, current researches and hopes of a cure for Alzheimer’s disease. History Around the turn of the century, two kinds of dementia were defined by Emil Kraepin: senile and presenile. The presenile form was described more in detail by Alois Alzheimer as a progressive deterioration...
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...explain what we are and do in genetic terms, began with the English polymath Francis Galton, who in 1883 coined the term "eugenics" to refer to his proposal that humanity improve itself through judicious breeding. Galton's measurements of the physical and mental characteristics of various groups had convinced him that upper-class gentlemen like himself were innately smarter than poor white men, let alone "inferior races" like Africans. On a trip to Africa, however, Galton was mightily impressed with the physical endowments of Hottentot women, whose bodies he measured from afar with a sextant because he was too timorous to approach them. Galton's ideas were carried forward in the United States by Charles Davenport, who directed biological research at the prestigious Cold Spring Harbor Laboratory on Long Island around the turn of the last century. Davenport believed in the heritability of traits like pauperism, shiftlessness, and the ability to be a naval officer. The latter, he asserted, was composed of subtraits for thalassophilia,...
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...THE GENETIC ENGINEERING: FRIEND OR FOE By The discussion about genetic engineering has been going on for a long time. Over the last two decades the science behind genetic engineering has advanced rapidly. Since scientists have gained the ability to map most of the human genome, they have begun to understand the different ways that deoxyribonucleic acid (DNA) can be manipulated or altered. The manipulation and altering of DNA can be done by many different methods, but the goals of these methods are all the same; to manipulate the genetic material in order to change its hereditary traits or to produce biological products. Experiments have been conducted in many different areas to include: bacteria, naturally produced drugs, plants, livestock, and laboratory animals. Many processes around genetic engineering are still in the experimental stages, but some processes that deal with bacteria, natural produced drugs and plants have gained approval from agencies such as the Federal Department of Agriculture. The most controversial matters about genetic engineering is its potential us in human beings. This brings rise to many ethical and moral issues about genetic engineering, which we will discuss. In general there are three techniques used in the manipulation of human genes, they are cloning, somatic cell manipulation, and human germline manipulation. In general, cloning consists of creating exact copies...
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...Alzheimer’s Disease: Not Just Loss of Memory This is a 8 page, 10 resource paper discussing Alzheimer’s disease, discussing the history, symptoms, diagnosis and hopes for a cure of the disease. Alzheimer’s Disease: Not Just Loss of Memory Introduction Alzheimer's disease, a neurodegenerative brain disease, is the most common cause of dementia. It currently afflicts about 4 million Americans and is the fourth leading cause of death in the United States. Furthermore, Alzheimer’s disease is the leading cause of mental impairment in elderly people and accounts for a large percentage of admissions to assisted living homes, nursing homes, and other long-term care facilities. Psychotic symptoms, such as delusions and hallucinations, have been reported in a large proportion of patients with this disease. In fact, it is the presence of these psychotic symptoms can lead to early institutionalization (Bassiony, et all, 2000). Learning about Alzheimer’s disease and realizing that it is much more that just a loss of memory can benefit the families of those with the disorder as well as society as a whole. The purpose of this paper is to look at the disorder, as well as to discuss the history, symptoms, diagnosis and hopes of a cure for Alzheimer’s disease. History Around the turn of the century, two kinds of dementia were defined by Emil Kraepin: senile and presenile. The presenile form was described more in detail by Alois Alzheimer as a progressive deterioration of...
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...large proportion of patients with this disease. In fact, it is the presence of these psychotic symptoms can lead to early institutionalization (Bassiony, et all, 2000). Learning about Alzheimer’s disease and realizing that it is much more that just a loss of memory can benefit the families of those with the disorder as well as society as a whole. The purpose of this paper is to look at the disorder, as well as to discuss the history, symptoms, diagnosis and hopes of a cure for Alzheimer’s disease. History Around the turn of the century, two kinds of dementia were defined by Emil Kraepin: senile and presenile. The presenile form was described more in detail by Alois Alzheimer as a progressive deterioration of intellect, memory and orientation. As a neuropathologist, Alzheimer studied the case a 51 year-old woman. When she died, Alzheimer performed an autopsy and found that she had “cerebral atrophy” (deterioration of the brain), “senile plaques” (protein deposits) and “neurofibrillary tangles” (abnormal filaments in nerve cells) in her brain -- three common pathological features of those who have Alzheimer’s Disease (Ramanathan, 1997). Today, as research on Alzheimer's disease progresses, scientists are describing other abnormal anatomical and chemical changes associated with the...
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...Walter Glannon: Genes, Embryos, and Future People Bioethics, 02699702, Jul98, Vol. 12, Issue 3 ABSTRACT: Testing embryonic cells for genetic abnormalities gives us the capacity to predict whether and to what extent people will exist with disease and disability. Moreover, the freezing of embryos for long periods of time enables us to alter the length of a normal human lifespan. After highlighting the shortcomings of somatic-cell gene therapy and germ-line genetic alteration, I argue that the testing and selective termination of genetically defective embryos is the only medically and morally defensible way to prevent the existence of people with severe disability, pain and suffering that make their lives not worth living for them on the whole. In addition, I consider the possible harmful effects on children born from frozen embryos after the deaths of their biological parents, or when their parents are at an advanced age. I also explore whether embryos have moral status and whether the prospects for disease-preventing genetic alteration can justify long-term cryopreservation of embryos. INTRODUCTION Recent advances in reproductive biotechnology have given us the ability to intervene in the process of human biological development from embryos to people. One type of intervention is the testing of embryos for genetic defects that cause disease, which enables us to choose between allowing these embryos to result in disabled people or selectively terminating...
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...Brain imaging techniques Introduction to brain imaging techniques and other methods A number of techniques are available to investigate the question of how and where in the brain particular perceptual and cognitive processes occur. Tasks or tests can be devised that place varying levels of demand on the cognitive, sensory or motor capacities of the participant being tested. Performance of these tasks is then correlated with physiological measurements, and on the basis of these results, we may go on to ascribe functions to areas of the brain. Whilst there is a growing fascination with imaging techniques in the popular media (e.g. ‘This is your brain on politics’), it’s important to bear in mind that each technique has limitations that often don’t get picked up on by newspaper editors who themselves have little-to-no experience using them. The most often overlooked limitation is the issue of ‘reverse inference’ – just because cognition X (e.g. using one’s memory) is associated with brain activation Y (e.g. activation in the prefrontal cortex), that doesn’t mean that if a participant displays activation Y, they are necessary engaging in cognition X. Below we highlight some key neuropsychological and neuroscientific techniques, and a few of their limitations. There are also a number of great blogs that deal with issues relating to neuroscience, particularly in the popular press (e.g. Bad Science, The Neurocritic, [citation needed]). Testing brain damaged subjects (Neuropsychology) ...
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