Genetic Testing and The Diagnosis of Genetic Diseases...

Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise. It is patients’ right to opt for genetic testing on their own DNA, although they are accepting a great risk by doing so.†¦show more content†¦These strands are separated by length using electrophoresis and detected automatically by computers to be analyzed (Lyons, 2004). Another method of genetic testing is extracting one cell from an 8-cell embryo and using preimplantation genetic diagnosis (PDG) to determine the presence of disorder-causing genes (Holt, 2012). These methods of genetic testing are accurate, as long as the genetic origin of the tested disease is known (Mahdieh Rabbani, 2013), but their reliability is harmed by the fact that the results determine probability of diseases occurring (Holt, 2012). Even though a test accurately determines the presence of a given mutation, that mutation may only indicate a patient’s predisposition to developing symptoms. Since other genes or environmental factors may play a part in the tested disease, the results of testing aren’t entirely reliable for a conclusion of whether or not a patient will develop the disease. One disease that can be tested for using these methods is Huntington’s disease, which causes involuntary spasms and contractions and a decline of coordination and cognitive ability (Online Mendelian Inheritance in Man [OMIM], 2014). These symptoms occur as a result of a trinucleotide repeat in the huntingtin gene on chromosome 4p16.3, also known as the HTT gene. The disease is autosomal dominant, with the completeness of itsShow MoreRelatedCracking Your Genetic Code: A Review of Genetic Testing1538 Words   |  7 PagesYour Genetic Code: A Review of Genetic Testing 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 geneticRead More Embryo Diagnosis1699 Words   |  7 PagesEmbryo Diagnosis Karen and Roger have decided to start a family. Again. It has been nearly six years since their first and only child, Katie, was born, and just over two years since she died. In her four years of life, Katie was plagued with the fatal Tay-sachs disease. Because the enzyme needed to rid her brain of fatty materials was absent at birth, she lost her sight when she was only eighteen months old. Her ability to operate the left side of her body was gone several months later. Read MoreShould Scientists Be Allowed to Perform DNA Tests on Selecting Human Embryos?1206 Words   |  5 Pagesextracting several eggs from a woman’s body and then fertilizing them in a laboratory. A couple days after fertilization, genetic tests can be applied on a cell that is removed from the embryo. The DNA testing process is called preimplantation genetic diagnosis (PGD) and usually triggers the diagnosis of the embryos with genetic abnormalities but can also identify other genetic traits of the future progenitor such as sex, athletic ability, special talent, and certain physical appearance. The researchersRead MoreGenetic Testing or Genetic Screening1514 Words   |  7 PagesGenetic testing, also known as screening, is a rapidly advancing new scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives. Genetic screening is the sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological. As genetic screening becomes more advanced and easily accessible, it presents society with difficult questions that must be asked about the boundaries of science and to whatRead MoreGenetic Privacy And The Human Genome Project1480 Words   |  6 PagesWith bounding advances in the field of genetics, genetic privacy has sparked a controversy. In the 1980s, the Human Genome Project was formulated to sequence the entirety of the human genome. The first draft of this project was published in Nature in February, 2001, about 10 percent short of completion (National Institutes of He alth [NIH], 2015). Originally, scientists had hypothesized that there was anywhere from 50,000 to 140,000 genes, but after the release of this first draft and the later completionRead MoreThe Tay Sachs Disease: A Case Study1317 Words   |  5 PagesStudent School Interdisciplinary Team The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper humanRead MoreArgumentative +/- Pre-Implantation Genetic Diagnosis1001 Words   |  5 Pagesthat you re having trouble conceiving because of a genetic abnormality you never even knew you had. Your mind races and your heart sinks. How is this possible? You never thought you would have to deal with not being able to have a baby one day. There are several options you have to try and conceive without passing on the genetic abnormalityÂ… the doctor continues to explain, but the one I would recommend first is Pre Implantation Gen etic Diagnosis. You and your wife finally decide on PGD, a typeRead MoreGenetic testing is a class of medical testing that recognize changes in chromosomes, gene or1300 Words   |  6 PagesGenetic testing is a class of medical testing that recognize changes in chromosomes, gene or proteins. This type of test look for abnormalities in DNA or RNA that is collected from a person’s blood, body fluids or tissues. Genetic testing scans the genes looking for large or small change that occur to gene. These changes to the genes could have missing or addition parts that could change the chemical base within the DNA strand. Abnormal genes could be the result of other mistakes like the genesRead MoreVitro Fertilisation ( Ivf ) Essay1402 Words   |  6 PagesPre-implantation genetic diagnosis (PGD) is a screening test used to determine if genetic or chromosomal disorders are present in embryos produced through in vitro fertilization (IVF). Preimplantation genetic diagnosis screens em bryos before they are transferred to the uterus so couples can make informed decisions about their next steps in the IVF process. Embryos unaffected by the genetic or chromosomal disorder can be selected for transfer to the uterus. Why is the use of pre-implantation genetic diagnosisRead MoreDiabetes Is A Rising Epidemic Essay756 Words   |  4 PagesC-peptide testing (National Institute of Diabetes and Digestive and Kidney Diseases [NIDDK], 2015). However, recent research (Oram et al., 2016) has proposed that genetic risk scoring may be effective in accurately classifying diabetes. Furthermore, proper identification would assist providers in predicting which young adults are likely to advance quickly to a state of insulin insufficiency. In this paper, we will review and discuss the research and clinical findings associated with genetic risk scoring

Examination of SportsScotland and Inactivity in women in Scotland Free Essays

string(39) " in place to promote and develop this\." Introduction Inactivity in girls and young women is an increasing public health issue in Scotland. 65% of 14 year old girls do not reach recommended levels of physical activity and 43% of adult women do little or no exercise (Sportscotland, 2011). It is therefore understandable that the government is striving to tackle this problem by implementing initiatives such as Fit for Girls (FFG) in secondary schools across Scotland. We will write a custom essay sample on Examination of SportsScotland and Inactivity in women in Scotland or any similar topic only for you Order Now The Fit for Girls programme is a joint initiative between the Youth Sport Trust and sportscotland, aimed at increasing physical activity participation among girls aged 11 to 16 years. The programme was piloted in 2008 and is being delivered to 296 mainstream and 11 additional support needs (ASN) schools across Scotland, over a 3 year time schedule. The primary objective of the programme is to bring about sustainable change in schools that moulds a positive future for girls’ participation in physical activity. Fit for Girls aims to achieve this by providing an interactive environment for participants, emphasising the importance of consulting girls, working with them to establish reasons for disengagement and developing strategies to enhance future participation. The principles of respect, empowerment and participation are inherent of the programme. Girls who are currently inactive or have low levels of participation are encouraged to express their thoughts, feelings and ideas in a real and honest way. It is hoped that the Fit for Girls programme, coupled with the engagement of PE staff and Active Schools Coordinators, has the ability to make a significant impact on girls’ physical activity levels as well as their perception of physical activity and sport. Funding Sportscotland is a Quango, that is, an organisation that is funded by taxpayers, but not controlled directly by central government. Sportscotland are provided with a budget from the government and they choose how, and where to distribute the funds. A sum of ?530, 000 was invested into the Fit for girls programme in 2008. This would finance the roll out of the program over a 3 year period. Each participating secondary school was entitled to apply for a ?700 start up grant. There was flexibility in how the grant was spent. However, funding could be used to employ staff or coaches to deliver sessions as this was not viewed as being sustainable in the long term however, the funding could be spent to train staff, volunteers, parents and senior pupils, to provide them with the essential skills and confidence required to deliver the activities. Other uses included modernising changing facilities, upgrading equipment, and providing development pathways for senior pupils. Whilst many acknowl edge the importance of sport and its potential to greatly impact on a nation’s health, culture and pride, it can be argued that for a country in severe economic crisis, the ?46,257,000 savings, which could be achieved from cutting sportscotland may be better invested elsewhere in the public sector. It is due to this controversial issue that many organisations and projects such as FFG are hanging in the balance. They are completely dependant on funding and as FFG has reached the end of its three year schedule, it is not yet known whether their funding will be extended. Links to Elite Sport and Mega Events The links between Fit for Girls and elite sport is limited. It is unlikely that a project of this nature and capacity will unearth a substantial amount of new talent, of the standard to perform at an elite level. The links between this project and events such as the 2012 and 2014 Olympic and commonwealth games appear to be relatively minimal. These mega events are elite sport and competition at the highest possible level and see countries and athletes from all over the world participate whereas, FFG is sport at a basic, introductory level and is a national strategy within Scotland, exclusive to girls of a certain age. However, by focussing on the foundation principles and objectives of both events, links can be made. â€Å"The most important thing in the Olympic Games is not to win but to take part, just as the most important thing in life is not the triumph but the struggle. The essential thing is not to have conquered but to have fought well.† (Olympic creed). Whilst the Olympic Games and FFG appear to be at polar opposites on the sporting spectrum, they both share a similar philosophy which places great importance on participation and personal achievement. It is evident that hosting the 2012 Olympics and 2014 Commonwealth games provides the nation with a great opportunity to capitalize on the hype and publicity of the games and foster this as a catalyst for change and sporting development. This is recognized by reaching higher which acknowledges that â€Å"Major sporting events such as the Olympic, Paralympics and Commonwealth Games provide electrifying experiences for competitors and spectators. If such events are to provide an enduring legacy, they must be used as catalysts for chang e.† – (Reaching Higher, 2007). In FFG’s 1st year, participation levels in P.E and extra- curricular activities rose from 18- 27% This increased participation, expands the national pool of elite sporting talent for events such as the commonwealths, illustrating that FFG does link to elite sport and its major events. In the same way, these mega events greatly benefit schemes of this nature. Reaching higher states that, â€Å"Volunteers and professional staff are core to the delivery of our vision. Without their expertise people will not get enthused and involved and our sportsmen and women will not reach their potential.†- (Reaching higher, 2007). Whilst it is unlikely that the programme will produce a wealth of new elite sporting talent, FFG does have the potential to produce girls who are passionate about sport and may pursue a career in the sport and leisure industry, in a voluntary, coaching or management and development capacity. This is perhaps the most prominent link to elite sport and mega eve nts and the project has a framework in place to promote and develop this. You read "Examination of SportsScotland and Inactivity in women in Scotland" in category "Essay examples" The level 1, Sports Leader Award is offered to s4 core pupils, this allows them to gain leadership experience, work with Active Schools Coordinators and Sports Development, as well as working with talented girls who are at risk of becoming disaffected. Additionally, the ‘Heartstart’ Training, British Heart Foundation program is offered, teaching pupils emergency aid such as CPR and how to recognise heart attack symptoms. It can therefore be drawn that whilst the links between this program with elite sport and mega events are indirect they are still significant. Inclusion The most prominent issue regarding inclusion with this program is that it excludes boys. Through FFG, the young women are receiving higher quality equipment and changing facilities, as well as having a greater deal of input and choice into the curriculum structure. It is evident that this may result in the boys feeling jealous and overlooked, which could have a detrimental effect on male participation levels and motivation. However, Reaching Higher illustrates that with regards to female participation in the 16+ age group: rates stand at 59% against 68% of young men additionally, 40% of girls have dropped out of all sports activity by the time they reach 18 (sportscotland participation survey. 2002-2004). This demonstrates that drop out and participation levels are a greater problem in girls than boys. Studies have suggested that the main reasons for girls drop out in P.E are lack of skill, and feeling embarrassed (Fit for Girls Workshop: Bucking the Trend, 2010). On average, girls e nter sport at 7.4 years of age in comparison to boys at 6.8 years old. 47% of girls are reported to be involved with some kind of organized sport by age 6, while 60% of boys of the same age are participating. (Women’s Sports Foundation Research Report 2008). This illustrates that on average, boys have a head start on girls with regards to sports participation and skill development. Research into the sociological dimensions of girls’ physical activity participation concluded that the â€Å"traditional subject matter of physical education†¦privileges boys while disadvantaging girls†. What is sometimes referred to as the â€Å"hidden curriculum† in physical education, places great importance on skill level and ability, as well as emphasizing competition, rather than promoting sport and physical activity as part of a healthy lifestyle. (Garrett, R. 2004). The curriculum centre’s around team games and competitive activities and this learning climat e, in turn, has often favoured male pupils due to their greater level of experience in a sports environment. Additionally, their confidence to perform athletic skills, which they are both competent and familiar with lead them to enjoy and excel in P.E classes, while girls often experience anxiety and marginalization. Literature also states that women are far more self-conscious than men when participating in sport and physical activity. (Brudzynski, L., William, E. 2010). The Fit for Girls program aims to combat this by adapting the curriculum to include more expressive and artistic activities, in conjunction with this, evidence suggests that the female only environment assists in reduce anxiety and body image concerns â€Å"Female PE staff makes me feel more comfortable taking part in activities, especially trampolining and dance.† (Bannockburn High School, S3 pupils.) Many would champion the program for seeking activities and teaching environments which increase female part icipation in P.E however, it can be argued that with regards to the modernized changing facilities, which include hair dryers and straighteners, the boys are being unfairly discriminated against and are disadvantaged. In today’s society, young men feel the pressure to look a certain way and conform as well as girls, this could be seen as a luxury which if anything, nurtures stereotypical views and creates an even greater sense of segregation and conflict between male and female pupils. Alternatively, Evidence suggests that whilst boys do care about their appearance and would like upgraded facilities, it has a stronger influence on the take-up of females than their male counterparts. Fit for Girls’ runs in 296 of 376 mainstream high schools, which equates to 79% and only 11 out of 193 ‘ASN’ high schools, equivalent to 6%. Whilst disabled pupils are not completely excluded from this scheme, the figures clearly illustrate that the provision is severely limited. â€Å"People with a disability, who equate to one in five of our population, are also less likely to participate in sport† (Reaching Higher, 2007). Therefore, it can be argued that if anything, they are at a greater need for exposure to projects such as this. Conversely, it is evident that there are many children with additional need who do not attend an ASN school, instead they are included in the mainstream schooling system,(Scottish Education Report 2007), suggesting that whilst the program is only operating in 6% of ASN schools, it is likely to be reaching a larger percentage indirectly. A further issue regarding the inclusion of this program is that it is only delivered in secondary education. It can be postulated that FFG would achieve even greater results if it was to engage with the girls at a younger age i.e. primary school. By interacting with the girls at a younger age, there is more chance of positively influencing their perception of sport and instilling good habits and attitudes however, It has been identified that between the age of 14-18 is the period in their life when most girls drop out of sport, with 40% being completely disaffected by the time they reach 18. With projects such as this, which rely heavily of funding, there is always going to be issues of inclusion. This is a project which undeniably targets a very specific population, thereby excluding many others however, by analyzing the scheme and what they are striving to achieve, it is difficult to condemn or pick fault in their strategy. The nations’ disengagement with sport and the problems that this creates cannot be tackled with one sweeping solution, whilst FFG may isolate certain groups; it is likely to have a greater success rate by focusing on its target demographic and their specific needs, rather than attempting to reach a larger population on consequently limited funding and resources. Whilst the reasons to target such a specific population are justifiable, the project could be made more sustainable and inclusive if it was integrated into the curriculum for excellence. This appears to be the next logical step forward and would enable the program to flourish and prog ress without the requirement of additional funding. Conclusion In today’s society a physically active lifestyle is recognised as an essential component of healthy living. In addition to the long term health benefits, physical activity during childhood supports holistic development, assisting to prevent overweight and obesity and the health concerns associated with these conditions, as well as enhancing psychological wellbeing. With adolescent girls being identified as at risk of becoming disaffected, The Fit for Girls project set out with clear objectives to increase the participation in sport of this population and improve their experience of sport. There is limited literature evaluating the success of the project to date however, from initial figures and case studies, the project appears to have been a success in achieving its primary objectives. With regards to elite sporting pathways and links to mega events, the connections are extremely limited, only by analysing the basic foundation principles can any parallels be drawn and even th en, they are still weak. Undoubtedly there are issues of inclusion with this scheme, by targeting such a specific demographic; it inevitably isolates a wider population. With everything considered, it can be drawn that whilst its links to elite sport are limited and it may be subject to scrutiny over issues of inclusion, the project was successful in achieving its objectives and is a small, but significant stepping stone towards increasing female sports participation. Despite acknowledging the success and importance of this project it could be concluded that the best way forward does not require an extension to the funding, instead, the principle and structure of the project should be addressed and integrated into the curriculum for excellence. References Bailey, R., (2005). Evaluating the relationship between physical education, sport and social inclusion. Education Review, 57, (1), 71-90. Brudzynski, L., William, E. (2010) Garrett, R., (2004). Negotiating a physical identity: girls, bodies and physical education. Sport, Education and Society, 9 (2), 223-237. Ferguson, M., (2009). Call for Scottish PE overhaul after damning report. Future Fitness. Sport and Fitness for today’s youth, July. p.5. Fit for Girls Workshop: Bucking the Trend, (2010) Hardman, K. (2007). Physical Education: â€Å"The future ain’t what it used to be!† University of Worcester, UK. Hardman, K., (2008). The Situation of Physical Education in Schools: a European Perspective. Human Movement, 9 (1), 1-14. Scottish Executive (2003). Let’s make Scotland more active – A Strategy for Physical Activity. The Stationery Office, Edinburgh. Scottish Education Report. (2007) Wallace, J ., Homes, A. (2007). Fit for the FutureYoung people’s participation in physical activity in Scottish secondary schools. Scottish Consumer Council, Glasgow. Women’s Sports Foundation Research Report. (2008) Reaching Higher. (2007) www.scotland.gov.uk www.sportscotland.co.uk. www.youthsporttrust.org How to cite Examination of SportsScotland and Inactivity in women in Scotland, Essay examples

Chocolate Covered Gummy Bears free essay sample

Chocolate covered gummy bears are my favorite candy. I hate gummy bears, but I absolutely adore chocolate covered ones. The bite-sized, chewy, bear-shaped confections drenched in creamy milk chocolate create a melt-in-your-mouth phenomenon that ordinary gummy bears can’t provide. Regular gummy bears bore me. They’re just rubbery, gelatin-based candies that don’t have a real flavor. They try to trick you by coming in a variety of colors: red, orange, yellow, green, and white. But in reality they all taste the same. I’d rather eat fruit and vegetables. Chocolate covered gummy bears have been my favorite candy since I was about four years old. My brother used to take me to the Sweet Factory and buy a bag of them for me every time he took me out to spend time with me. That’s just about the only memory I have with him. You see, there’s a tremendous age gap separating him and me. We will write a custom essay sample on Chocolate Covered Gummy Bears or any similar topic specifically for you Do Not WasteYour Time HIRE WRITER Only 13.90 / page A few weeks prior to my very first day of preschool, he went off to a college about 484 miles away. After that, he never really seemed to come back. He currently lives in Manhattan, and his job is so time consuming that he doesn’t even come home for Christmas. Our conversations don’t get much past â€Å"Merry Christmas Aimee, what do you want for your present?† and â€Å"Happy birthday Aimee, what do you want for your present?† For the longest time he embodied a metaphorical chocolate covered gummy bear in my life, while I was the flavorless [insert random color] one. My parents were so proud of him. Everything I know about my brother has been derived from my mother’s tireless ability to brag about him. He was valedictorian of his senior class, graduated from UC Berkeley and made ridiculous amounts of money as an industrial engineer, then quit his job to pursue his dream in culinary arts, and has still somehow found his way to making ridiculous amounts of money working under a famous chef at one of the most prestigious restaurants in the world. I am a four-year member of a national-champion award winning dance team, and I ended my junior year with a 4.29 cumulative GPA, and I can make a good sandwich, but I’m nowhere near a valedictorian. Unfortunately, that’s about the only word my mother seems to comprehend. I’ve come to realize that although making my parents proud is important, making myself proud is my number one priority. I spent my last four years trying to make the most out of what high school has to offer. I wanted to challenge myself both physically through dance and mentally through academics to achieve great accomplishments. I am proud to say that I have endured four years of daily dance practices, conditioning, and pushups, all while maintaining the highest GPA among my 50-member team since I was a freshman. And for this reason, I award myself with the Chocolate Covered Gummy Bear Trophy of Success. All bragging rights reserved.