...Running head: HUNTINGTON’S DISEASE Huntington’s Disease Bradley Amos St. Ambrose University March 21, 2011 Huntington’s Disease Huntington’s disease is a devastating and progressive neurological disorder that results primarily from degeneration of nerve cells deep in the center of the brain that waste away (PubMed Health, 2011). According to National Institute of Neurological Disorder and Stroke (2010) more than 15,000 Americans suffer from this debilitating disease. Nearly all people who develop Huntington’s disease will die within 10 to 30 years from onset. This disease does not show bias to any sex, ethnicity or race. The pathophysiology of Huntington’s disease is inherited as an autosomal dominant trait with high penetrance (Jarvis, 2008, p.360). The symptoms of Huntington’s disease are abnormal uncontrollable movements and personality changes (Jarvis, 2008, p.360). As the disease progresses so does the severity of the symptoms. It is a genetic disease that is passed on from generation to generation. A person can be genetically tested to determine if you have the gene for this disease. To date there is not a cure for this rare debilitating disease (Medline Plus, 2009). Definition of Disorder Huntington’s disease was named after an American doctor George Huntington in 1872. Before it was named by Doctor Huntington it was called “chorea” which means choreography in Greek. It was named so because people affected by this...
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...Huntington Disease Rachelle Jelosek Idaho State University Jackson is a healthy twenty-seven year old male who recently presented to his doctors office inquiring about genetic testing. Jackson recently married, and his wife Alisha is anxious to start a family. Unfortunately Jackson does 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...
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...Ch 5:Cancer types Carcinoma - epithelial tissue, - metastasize Leukemia - bone marrow stem cells that produce white blood cells Sarcoma - connective tissue, muscle, bone, cartilage Lymphoma - lymph tissue, Hodgkins Adenocarcinoma - glandular epithelia, liver, salivary, breast Cancer Is Uncontrolled Cell Division What Is Cancer? Cell division is the process through which a cell copies itself Cancer begins when the a cell divides although it should not Unregulated cell division leads to a tumor, a mass of cells with no apparent function in the body Benign tumors do not affect surrounding structures Malignant tumors invade surrounding structures and are cancerous Malignant tumors can break away and start new cancers elsewhere through the process of metastasis What Is Cancer? Cancer cells differ from normal cells: Divide when they should not Invade surrounding tissue Move to other locations in the body What Is Cancer? All tissues that undergo cell division, such as ovarian tissue, are susceptible to cancer Cancer Risk Factors Known risk factors are linked to particular cancers… Not all exposures to chemicals and radiation causes cancers Cell Division Overview Cell division produces new cells in order to: Heal wounds Replace damaged cells For growth Also for reproduction Cell Division Overview DNA is organized into structures called chromosomes which can carry hundreds of genes along their length The number of in each cell depends...
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...Genetic Testing Overview Tracye D Burgess BIO 100 Dr. F. Zamamiri-Davis December 9, 2013 Genetic Testing Overview Tracye D Burgess BIO 100 Dr. F. Zamamiri-Davis December 9, 2013 Outline I. Genetic Testing of Diseases a. Genetic Testing II. Types of Genetic Testing a. Three Common Types b. Parental Testing c. Conclusion Impact Statement Genetic testing is a complex process, and the results depend both on reliable laboratory procedures and an accurate translation of results. Tests also vary in sensitivity, that is, their ability to detect mutations or to detect all patients who have or will develop the disease. Interpretation of test results is often complex even for trained physicians and other health care specialists. Genetic Testing Genetic testing uses a variety of laboratory procedures to find out if a person has a genetic condition or disorder or is likely to develop a disease based on his or her genetic makeup. Individuals may wish to be tested if the family shows a history of one specific disease such as Huntington's Disease or breast cancer, if they show symptoms of a genetic disorder which could be improved by early diagnosis, or if they are planning a family and are concerned about the possibility of passing on a genetic trait to their offspring. Genetic testing can also look at the parent's genotype or look at the genotype of the fetus or newborn. This type of testing...
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...Conclusion In the systematic analysis of the 23 studies we have highlighted the role of Leventhal’s Common Sense Model (SRM) in the analysis of hereditary / familial cancer and the role of the psycho-social impact on individuals affected by the disease or with high risk for the disease in the screening for hereditary / familial cancer and in the genetic testing and counseling. Thus, we have identified three themes in which we included the analyzed studies: a) identification of the predictors involved in the screening compliance, in the responses to health threats, in emotional distress; b) assessment of the emotional and cognitive impact, of the perceived risk and the perceived disease in genetic testing, of the family history of cancer or...
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...Research Proposal Psych/610 Kristina England University of Phoenix Janice McMurray August 30, 2013 Research Proposal I. Introduction “Alzheimer’s disease causes 50% to 60% of all dementias and is the sixth leading cause of death in the United States and is the fifth leading cause among persons age 65 and older” (Heron, 2009). II. Seniors with dementia A. “Dementia is the progressive deterioration in cognitive function - the ability to process thought (intelligence)” (Nordqvist, 2013, pp. 1). “Dementia is a non-specific syndrome in which affected areas of brain function may be affected, such as memory, language, problem solving and attention” (Nordqvist, 2013, pp. 3). Dementia is most commonly seen in the elderly. B. Symptoms include; memory loss, moodiness, and communication difficulty. C. Causes of dementia include; Alzheimer’s disease, stroke, dementia with Lewy bodies, Fronto-temporal dementia, Huntington’s disease, and many other diseases. D. Two main categories 1. Cortical Dementia-“The cerebral cortex is affected. This is the outer layer of the brain. The cerebral cortex is vital for cognitive processes, such as language and memory. Alzheimer's disease is a form of cortical dementia, as is CJD (Creutzfeldt-Jakob disease)” (Nordqvist, 2013, pp. 9). 2. Subcortical Dementia-“A part of the brain beneath the cortex (deeper inside) becomes affected or damaged. Language and memory are...
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...Unit II: Genetics Brief Overview Reading: Chapters 3, 4, 9-12, 14 (Note: you have reviewed much of this already) The earth is teeming with living things. We can easily see some of the larger organisms—trees, grass, flowers, weeds, cats, fish, squirrels, dogs, insects, spiders, snails, mushrooms, lichens. Other organisms are everywhere, in the air, in water, soil and on our skin, but are too small to see with the naked eye—bacteria, viruses, protists (single celled eukaryotes such as amoebae), and tiny plants and animals. Life is remarkable in its complexity and diversity, and yet it all boils down to a very simple idea—the instructions for making all this life are written in nucleic acids, usually DNA. Most organisms have a set of DNA that contains the instructions for making that creature. This DNA contains four “letters” in which these instructions are written—A, T, G, and C. The only difference between the code for a dog and the code for a geranium is in the order of those letters in the code. If you took the DNA from a human and rearranged the letters in the right way, you could produce an oak tree—arrange them slightly differently and you would have a bumble bee—arrange them again and you would have the instructions for making a bacterium. Acting through more than two billion years, the process of evolution has taken one basic idea—a molecular code that uses four letters—and used it over and over, in millions of combinations to produce a dazzling array of life forms...
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...Outline Overview • Every day we observe heritable variations (such as brown, green, or blue eyes) among individuals in a population. • These traits are transmitted from parents to offspring. • One possible explanation for heredity is a “blending” hypothesis. ° This hypothesis proposes that genetic material contributed by each parent mixes in a manner analogous to the way blue and yellow paints blend to make green. ° With blending inheritance, a freely mating population will eventually give rise to a uniform population of individuals. ° Everyday observations and the results of breeding experiments tell us that heritable traits do not blend to become uniform. • An alternative model, “particulate” inheritance, proposes that parents pass on discrete heritable units, genes, that retain their separate identities in offspring. ° Genes can be sorted and passed on, generation after generation, in undiluted form. • Modern genetics began in an abbey garden, where a monk named Gregor Mendel documented a particulate mechanism of inheritance. A. Gregor Mendel’s Discoveries 1. Mendel brought an experimental and quantitative approach to genetics. • Mendel discovered the basic principles of heredity by breeding garden peas in carefully planned experiments. • Mendel grew up on a small farm in what is today the Czech Republic. • In 1843, Mendel entered an Augustinian monastery. • He studied at the University of Vienna from 1851 to...
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...DNA Fingerprinting DNA fingerprinting is a test to identify and evaluate the genetic information-called DNA (deoxyribonucleic acid)-in a person's cells. It is called a "fingerprint" because it is very unlikely that any two people would have exactly the same DNA information, in the same way that it is very unlikely that any two people would have exactly the same physical fingerprint. The test is used to determine whether a family relationship exists between two people, to identify organisms causing a disease, and to solve crimes. Only a small sample of cells is needed for DNA fingerprinting. A drop ofblood or the root of a hair contains enough DNA for testing. Semen, hair, or skin scrapings are often used in criminal investigations . A person who has DNA fingerprinting done voluntarily usually provides a sample of blood taken from a vein. DNA testing also can be done on cells obtained by a simple mouthwash or a swab of the cheeks inside themouth, but these methods are not recommended. Why It Is Done DNA fingerprinting is done to: * Find out who a person's parents or siblings are. This test also may be used to identify the parents of babies who were switched at birth. * Solve crimes (forensic science). Blood, semen, skin, or other tissue left at the scene of a crime can be analyzed to help prove whether the suspect was or was not present at the crime scene. * Identify a body. This is useful if the body is badly decomposed or if only body parts are available, such...
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...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 their further development. Alternatively, in the foreseeable future it may become possible to prevent disease by correcting...
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...Patrick Zimmer Home | Projects | Music | Sitemap | Contact Genetic Engineering Essay Projects / Academic / Genetic Engineering Essay GENETIC ENGINEERING - The benefits and problems Genetic engineering is a powerful and potentially very dangerous tool. To alter the sequence of nucleotides of the DNA that code for the structure of a complex living organism, can have extremely ill effects although the potential benefits can be huge. Before advances in genetic applications, gene therapy was unheard of and genetic defects were always inherited, plaguing generations. Today genetic testing is widely available, such as prenatal karyotyping of chromosomes to check for genetic abnormalities. Genetic testing is also useful for families in which autosomal recessive disorders are known to exist, when these are planning to have children. In addition, genetic testing is available for people who might have inherited a genetic disorder which only becomes apparent later in life (for example Huntington's Disease). Individual choice decides whether a person would rather know if they are particularly vulnerable to certain diseases or more likely to die young. Knowing that your life may be short could inspire you to make the most of it while it could equally well cause severe depression. Today`s advances in gene therapy make it possible to even remove a faulty gene and replace it with a functioning gene in cells lacking this function. Though these techniques are available, they are still in...
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...The neurofibromatoses (NF) are genetic disorders of the nervous system. At this time two distinct forms are known: NF1 and NF2. One baby in every four thousand is born in the United States with NF1. It is one of the most common genetic disorders, affecting some one hundred thousand americans. NF2 is less common and occurs in only one and every forty thousand births. In both forms of NF severity of symptoms vary greatly. The effects can be severely disabling, mildly disfiguring or can even go undetected. Several other names for this disorder have been used in the past but recent advancements in understanding the disorder made some of those terms obsolete. NF1 was previously known as peripheral neurofibromatosis, or von Recklinghouasen’s disease after the doctor who first described it in 1882. NF2 was called bilateral acoustic nuerofibromatosis, central neurofibromatosis, or vestibular schwannoma. NF is found in every racial and ethnic group throughout the world and affects both sexes equally. Both neurofibromatosis1 and neurofibromitosis2 are caused by abnormal genes. This disease cannot be "caught" from someone who has it already. . A common early sign of NF1 is six or more tan spots on the skin. They are called "cafe-au-lait" (French for "coffee with milk") spots. These spots are often present at birth, and may increase in size and number with age. They also may become darker. More than half of affected children have some signs ...
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...Patient history Doctors often begin their examination of a patient suspected of having dementia by asking questions about the patient's history. For example, they may ask how and when symptoms developed and about the patient's overall medical condition. They also may try to evaluate the patient's emotional state, although patients with dementia often may be unaware of or in denial about how their disease is affecting them. Family members also may deny the existence of the disease because they do not want to accept the diagnosis and because, at least in the beginning, AD and other forms of dementia can resemble normal aging. Therefore additional steps are necessary to confirm or rule out a diagnosis of dementia. Physical examination A physical examination can help rule out treatable causes of dementia and identify signs of stroke or other disorders that can contribute to dementia. It can also identify signs of other illnesses, such as heart disease or kidney failure, that can overlap with dementia. If a patient is taking medications that may be causing or contributing to his or her symptoms, the doctor may suggest stopping or replacing some medications to see if the symptoms go away. Neurological evaluations Doctors will perform a neurological examination, looking at balance, sensory function, reflexes, and other functions, to identify signs of conditions - for example movement disorders or stroke - that may affect the patient's diagnosis or are treatable with drugs. Cognitive...
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...PGD – Pre-implantation Genetic Diagnosis. IVF is known as in vitro fertilisation. This procedure is done by removing an egg from a female, and a sperm cell from the male and combining the egg and sperm in a test tube. These two then form together and create a zygote, which then begins separating into and forming an embryo . PGD, is the pre-implantation genetic diagnosis. It is known as the pre testing of pre-implanted embryos for genetic disorders. This operation has been put into place for couples whose offspring will potentially have a risk of inheriting a genetic disorder from the parents . PGD tests for many disorders that can affect the unborn embryo/baby. Some of the diseases that can be scanned for are recessive sex-linked disorders,...
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... This is what individuals who have been diagnosed with schizophrenia have to deal with every day. Schizophrenia is a severe mental disease characterized by unpredictable disturbances in thinking. The word “schizophrenia” comes from the Greek words meaning “split” and “mind.” It refers to the characteristic schizophrenic behavior of withdrawing from reality and thinking in illogical and confused patterns. The thought problems associated with schizophrenia are described as psychosis. Many people with schizophrenia develop delusions and behave as though they live in a fantasy world. They may hear “voices” that others cannot hear and they believe that these “voices” carry messages from important people, such as God. Schizophrenics often suffer from disturbances in mood and behavior. Some patients may be unresponsive or withdrawn and may have difficulty expressing normal emotions in social situations. Over the last few decades, schizophrenia has become embedded in mainstream vernacular as any behavior or emotional response that is out of touch with reality. However, even with its attention heightened through movies and headline news stories, schizophrenia is still one of the most enigmatic and least understood disorders of the brain. With current research focused on the role of neurobiology and functioning on a cellular level, investigative analysis has merited new innovations towards its source, however, a single cause for the disorder still eludes scientists. Although the...
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