The Human Genome project, a revolutionary study that spanned over 13 years, hoped to discover more about the DNA of humans. The study's main goal was to provide new information to help with the diagnosis, treatment and prevention of genetic disorders. From the substantial amount of information and knowledge acquired from the project, new ways to test for genetic disorders, and the probabilities of inheriting disorders was gained. Gene testing, which involved taking a sample of a persons DNA, helped screen for a number of different disorders and problems. Before genetic testing, couples at risk of conceiving a child with a particular genetic disorder would have to initiate the pregnancy and then undergo the testing, faced with the dilemma of terminating the birth if the results weren't good. But because of the new technology available, with the combined effort of IVF, sperm and egg cells can be removed from both individuals, and the eggs would then be fertilized within a laboratory. The embryo's would then be tested for genetic mutations,…
Huntington’s disease is an autosomal dominant neurodegenerative disorder characterized by an abnormally high number of CAG repeats (polyglutamine) in the huntingtin (HTT) gene (also known as IT15), found in the short arm of chromosome 4, specifically, p16.3 (Buetow et al. 1991). Symptoms of this disorder include chorea (involuntary jerking movements), cognitive deficits, motor deficits, and changes in behavior. This disease gets progressively worse over time, starting with subtle behavioral, cognitive, and physical changes, progressing to severe memory decline, substantial personality changes, and debilitating motor and physiological deficits, and ending in death due to the incapacitating symptoms (Zuccato et al. 2010). Patients are generally…
Concerning genetic testing in general, a study found that among those who were confirmed to have the Tay-Sachs recessive gene, “about half of the carriers expressed a sense of shocked surprise… having been found to have some imperfection” (Childs). A lack of understanding or a false misconception about the idea of “carrier” status results in discomfort and an unwillingness to be tested; preferring a state of blissful ignorance. Since Tay-Sachs is an autosomal recessive disorder, being a carrier does not mean one has an “imperfection” or one has the potential to develop the disease but that they have the potential to pass on the disease to their children. They also do not express symptoms of the disease-- a common misbelief. And, even despite being a carrier, it does not mean that one’s child would ultimately be a Tay-Sachs child or even a carrier; “if only one parent is a carrier, there is no chance the child will have Tay-Sachs...a 2 in 4 (50%) chance that the child will be a carrier” (“Tay-Sachs Disease”). A diagnosis is not a condemning statement, but makes the prospective parents aware of the “potential” harm that might befall the child, if both happen to be carriers. In addition, Rosner states that “if the purpose of Tay-Sachs screening is to provide eligible clients with genetic counseling about reproductive and mating options, few would argue against screening” (Rosner).The common stigma that genetic screening may be used outside of medical usage breeds the misconception that genetic testing is wholistically bad and may be used to harm the individual. However, Rosner argues, that genetic screening is inherently not bad, but the way we use it. However, on the topic of the latter method, prenatal screening is riddled with controversy, specifically with the ability to pick the reproductive route. Since…
In 1872, the American physician George Huntington wrote about an illness that he called "an heirloom from generations away back in the dim past." One of its earliest names was chorea. Until recently, scientists understood very little about HD and could only watch as the disease continued to pass from generation to generation. Families saw the disease destroy their loved ones' ability to feel, think, and move. Scientist working disorders and stoke have recently got a break through with what's going on.…
Genetic testing to look for defects in the genes that are linked with the disease…
Genetic testing is being used in the medical field to decrease dangers in patients. The negative connotations brought by these examinations might be the reason a person, whom may have had great talents, will lower their capacity to excel. Insurance companies grant pensions and healthcare, consequently if a person were to be diagnosed even with a minimal chance of cancer by…
That uncertainty may soon be resolved. A few months ago, scientists announced they were on the verge of completing a new test to detect the gene for Huntington 's disease (formerly called Huntington 's chorea). But deciding whether to submit herself to the test is an anguishing choice for Ms. Wexler. "If I came out lucky, taking the test would be terrific, of course," she says. "But if I came out unlucky, well. . . ."…
From a patient’s perspective, people tend to see genetic information as more definitive, in the sense that 'you cannot change your genes' and that 'genes tell all about your future.’ Such genetic determinism is an oversimplification and does not take into account the nature of biologic pathways. From a provider’s perspective, genomics presents challenges with respect to ethical and professional responsibilities, including the appropriate use of genomic information in the health care setting. I believe that there should be an identification of provider education programs that increase use of appropriate screening, counseling and evidence-based genetic tests. By increasing the effectiveness of genomic testing, it will help dissolve the negative association and further increase the proportion of people who are willing to receive genetic…
Children born to parents who suffer from the disease have a 50% chance of inheriting and developing it. Hence, during pregnancy it is possible to find out if the child will carry the mutated gene by using two tests: amniocentesis and chorionic villus sampling (CVS); although it will not be able to verify what age the child will begin to develop the disease. Huntington’s disease affects 30,000 people in the United States and 150,000 people are at risk in inheritance. Symptoms usually appear in middle aged life at around 40-50 years of age. On the other hand, if the disease onset begins by the age of 20 it is called Juvenile Huntington disease, the symptoms and stages will progress faster. (Mayo Clinic Staff, 2011)…
The purpose of this paper is to give a description of Huntington’s disease (HD) causes, pathophysiology and clinical manifestations. This paper will specifically focus on Huntington’s disease pathophysiology. Huntington’s disease is an autosomal dominant, neurodegenerative disease that attacks a person’s motor, cognitive and behavioral functioning (Bordelon, 2013). Huntington’s disease is also referred to as Huntington’s chorea due to the progression of uncontrollable dance movements. Chorea is said to be the clinical hallmark of Huntington’s disease (Bordelon, 2013). Huntington’s disease is said to be one of the worst genetic diseases because the disease is fatal and many people don’t know they have it until they are in mid-life. This phenomenon is referred to as age-dependent penetrance (Jorde, 2014). A person has a 50% chance of developing the disease in middle life if they have a parent…
Huntington’s Disease, previously known as Huntington’s chorea, is a long term brain disorder that eventually leads to uncontrolled movement, problems with emotions, loss of cognitive abilities such as memorization, increased involuntary movements, behavioral symptoms, and degeneration of nerve cells in the brain(1). This disease has been recognized as a disorder for hundreds of years, but however, only recently a cause was instituted to explain the effects. During the eighteenth and nineteenth centuries, gene heredity was poorly understood as people who had the gene coding for the disease, died before many symptoms could appear. Huntington's Disease was first identified as an…
The gene that carries the mutation for Huntington’s disease follows a heterozygous dominant line of inheritance. This…
Though there are tests and testing facilities that do the genetic tests, prenatal genetic testing is not accessible to all at-risk or concerned families expecting a baby. Government funding should be put towards prenatal genetic testing to increase accessibility to testing facilities, discover more testing forms, and give more autonomy to physicians. With these improvements, low income-families and anyone with a family history of genetic diseases can find out and prepare for any irregularities before the baby is…
Huntington’s disease affects the body’s ability to think, talk and move. On average, the disease develops from 30-50 years old, however, can develop earlier or later. Specific affects, or symptoms, of Huntington’s Disease include: Poor memory, depression and/or mood swings, lack of coordination, twitching or other uncontrolled movements, and difficult walking, speaking and/or swallowing. As the disease progresses, eventually the person affected will need assistance performing simple tasks, such as getting dressed (learn.genetics.utah.edu). Huntington’s disease is a genetic disorder, and therefore, cannot be cured. There are however treatments that will make the patient more comfortable, although not slowing the disease. Anti depressants can help control the emotional effects of the disease. Drugs such as Amantadine and Tetrabenazine are used to try and control the extra, uncontrolled body movements. Those who stay active have been shown to develop the disease later rather than sooner in life (learn.genetics.utah.edu).…
my topic of research for psychology though it is a genetic disease. This made me to read more about…