Genetic on chromosome 4.” This gene is

Genetic diseases are some of the most common diseases that affects our world’s population. Among these diseases is Huntington’s Disease, which affects one out of one hundred-thousand people. The results of this disease can be extremely fatal, and it plays a huge role in the world of genetic diseases. “Huntington’s disease is named after George Huntington, who described it among residents of East Hampton, Long Island in 1872.” (Hopkins 1) George was a 22-year-old professor when he wrote and submitted an essay on the condition, which is then when it got passed on to fellow scientists. Later on, his paper was published in several magazine and newspaper articles, which is when it finally got recognition. Huntington’s Disease was later officially declared a hereditary neurodegenerative disease by the World Health Organization.  Huntington’s Disease, also known as HD, is a neurodegenerative disorder, which progressively shuts down all of your neurological functions. The disease causes the nerve cells in the brain to break down over a time period of 10-20 years. Huntington’s Disease is usually associated with many symptoms affecting different areas of your body, some may include; amnesia, delusion, difficulty thinking or understanding, compulsive behavior, irritability, depression, hallucination, paranoia, mood swings, tremor, weight loss, and impaired voice. Huntington’s Disease is fatal, and over time will result in the inability to think, speak, swallow, walk, and preform everyday functions.  The cause of Huntington’s Disease was unknown for many years, but eventually scientists came to the conclusion that HD is caused by mutation in a gene located on chromosome 4.” This gene is found in every human being, and contains a CAG repeat sequence. The normal copy of the gene produces a protein called huntingtin, but the faulty gene contains an abnormal region of what are called CAG repeats.” (Sanchez 1) Specific parts of the brain such as the basal ganglia have a negative reaction to the CAG repeats, which are abnormally larger than they should be if you have HD. These abnormal proteins attack your brain cells, which then results in neurodegeneration. The reason HD occurs is determined by the size of the CAG repeat sequence on chromosome 4. If the CAG repeat sequence is the normal size, you don’t carry the HD gene, but if the CAG repeat sequence is abnormally large, you have the HD gene.  Many inherited disorders can be prevented or controlled, but Huntington’s Disease is an inherited disorder that cannot be prevented or treated. Unfortunately, after 10-20 years after being diagnosed, death will be the result of the disease. Even if you get tested and catch the disease in its early stages, there is no way to prevent or slow the progression of the disease.  People of European descent are at the highest risk to carry the Huntington’s Disease gene, although the disease can still occur in people of any other descent. HD occurs most often in people who are of European descent due to the fact that HD originated in Europe. Those who were carries of the gene moved to different countries which exposed the gene to people of different descents, (people with the gene passed it on by reproducing with people of different descents). Huntington’s Disease comes in two forms; Juvenile Huntington’s Disease (JHD), and Huntington’s Disease. Although JHD is very rare, it still occurs, and about 10,000 kids worldwide are affected by it. JHD is usually fist found when children are anywhere from 6-14 years old, and the neurodegenerative process occurs much quicker. Children with JHD usually die within 5-10 years of their diagnosis. Huntington’s Disease usually develops between the ages of 30-50, and the neurodegenerative process takes longer. Adults that have Huntington’s Disease usually die within 10-20 years of their diagnosis.  As stated in the paragraph before, Huntington’s Disease eventually kills anyone who has it, which is why many people who have the disease or are at risk for it are concerned. Huntington’s Disease causes a person to forget how to speak or walk, which raises concern for many, along with it causing you to be unable to move, or think clearly. Many people who die of HD die from suffocation, which is due to the inability to swallow. Pnigophobia is the fear of suffocation or choking, and 28% of people have this phobia. This would raise a significant amount of concern for those with HD who are at a potential risk of dying from suffocation. A few other concerns include how difficult adjusting to the inability to speak, walk, or think clearly. With HD you could wake up one morning unable to talk, or walk, which raises a lot of concern and fear for many.  Along with many of the concerns and fears about HD, many myths become present too. There is a huge myth that HD is only possible in males, and this myth is present due to the fact that HD is most common in males, but it can still occur with females. Another myth is that HD can skip a generation. HD cannot skip a generation, however if a person with HD dies at a young age from another cause, it will be unclear that they had HD. The next statement that is commonly brought up is that you will show symptoms at the same age your parents did, which is incorrect. The symptoms of HD can occur at any age regardless of what age your parents started showing symptoms. The last very common myth about HD is that there is a cure. At the moment there is not a cure for HD, but the symptoms of the disease such as depression, anxiety, and involuntary movements can be managed with medication.  Since Huntington’s Disease is most common among people of European descent, it is commonly found in the continent in Europe, especially in the United Kingdom. Along with HD being found prominently in Europe, a small number of cases have also been reported in the United States, China, and Japan. HD is very rare, but other cases have been reported in other countries besides the ones listed above.  People all over the world, especially some familiar faces to some, are suffering with Huntington’s Disease. Emmy winning Journalist Charles Sabine got tested for HD at a young age, and the results came back positive. Sabine stated to NBC, “In 2005, I decided to take a genetic test to see whether I had Huntington’s, a disease which affected my father and brother. The test came back positive.” (Sabine 1) Ever since his diagnosis Sabine has been working to promote awareness about his disease and raise money to eventually find a cure. Woody Guthrie, who was an American singer and songwriter passed away due to complications of Huntington’s Disease on October 3rd, 1967. Guthrie was first diagnosed in 1952, and his condition was very poor at the time. Woody Gurthrie was very famous and well known in the folk music genre, and will be missed by many. Trey Gray is a drummer for the band Brooks & Dunn, and he received his HD diagnosis in 2006. Gray is still living with the condition and is not letting in get in the way of preforming for the band.  Till this day many scientists are still working to find a cure for Huntington’s Disease. “In August 2008 the U.S. Food and Drug Administration approved tetrabenazine to treat Huntington’s chorea, making it the first drug approved for use in the United States to treat the disease.” (NIH Authors 1) Many different forms of research are being conducted such as animal testing, clinical testing, imaging research, and fetal testing. At the moment scientists have not gotten closer to finding a cure, but they refuse to give up. These different forms of research go towards making advancements to hopefully finding a cure for Huntington’s Disease. Several organizations have created websites to help funding for the research being done to find a cure. Many famous people who have Huntington’s Disease are also raising and donating money to many of these research foundations.  One foundation is dedicating every dollar it earns to inherited diseases research, and that foundation is Jeans for Genes. The Jeans for Genes organization has currently raised over four million dollars and donated it to the research of inherited diseases such as Huntington’s Disease. As stated on the Jeans for Genes official website, “We help disorder-specific charities and patient groups to deliver inspiring projects and support services for children affected by a genetic disorder in the UK. The money raised on Jeans for Genes Day provide grants for day-to-day support, equipment, nursing and patient support services, research studies, and events which bring together affected children and their families. ” (Genetic Disorders UK 1) Huntington’s Disease is just one of the many inherited diseases that many people around the world suffer from. It is a disease commonly feared by many due to its symptoms and the fact that it is a fatal disease. Research is being done to help the progression of finding a cure, and many people or organization are helping to raise money to eventually find a cure for this inherited disease.  

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