Genetic Causes of Choroideremia (CHM)

Genetic Causes of Choroideremia (CHM) Choroideremia (CHM) is a rare genetic impairment of the CHM gene, located on the X sex chromosome, that affects vision, as the retina, a crucial part of the eye involved in sight, loses functionality. This condition affects 1 out of 50,000 to 100,000 and is 4% of all causes of blindness in humans (GHR, 2017). Choroideremia is a sex-linked recessive trait, which means that females who do not express the trait are called carriers because only one of their X-chromosomes has the recessive trait, which is masked by the dominant trait of not having the condition. For males, it only takes the mothers affected X-chromosome to become affected by CHM for life (GHR, 2017). With the assistance from adeno-associated virus gene therapy, conditions like Choroideremia can be treated and cured. The CHM gene on the X-chromosome is responsible for producing the Rab escort protein-1 (REP-1), however if the CHM gene is mutated or absent, the lack of REP-1 CHM is supposed to produce causes cell death in the retina, causing Choroideremia (Mura, 2007). Escort proteins are the cells traffic facilitator, regulating intracellular proteins, organelles, and matter. Rab proteins are characterized by their geranylgeranyl functional group, a fundamental structure involved in prenylation, which is important in binding proteins (Preising, 2005). REP-1 allows for other essential proteins to enter cells, allowing for cellular processes to occur. Choroideremia occurs when the CHM gene fails to produce the REP-1. If there happens to be a lack of REP-1, the body has a backup, REP-2, that can perform nearly all of the same processes as REP-1, except there is little to no REP-2 present in the retina, which is why Choroideremia exists. With the absence of REP-1, the cells lack the facilitator requi red for them to do their work, resulting with premature cell death, or dystrophy (NCBI, 2016). Choroideremia can be treated, and possibly cured, with the use of adeno-associated viruses (AAV) because of its ability to target locations on chromosomes. The adeno-associated virus was discovered in the 1960s as a contaminant of adenovirus (Weitzman and Linden, 2011), and was seen as a useless virus because it required the assistance of another virus in order to replicate (Gonà §alves, 2005). However, the adeno-associated virus is admired for its useful abilities. The adeno-associated virus is admired for its simple structure, consisting of single-stranded DNA with genomes that are controlled by hairpin shaped telomere structures (Cotmore and Tattersall, 2014). Another characteristic of the AAV is the precise targeting of Chromosome 19; in fact, the AAV is known as one of the only viruses with such capacity to specifically act upon on one chromosome nearly 96% of the time (Daya and Berns, 2008). A crucial aspect about the adeno-associated virus is that it lacks pathogenicity, whic h means it does not cause disease in its host nor does it cause cell death. It is the lack of pathogenicity that has allowed medical professionals to pursue new treatments for genetically caused diseases. Because AAVs can act on a specific location on a chromosome without killing the host cell, treating sex-linked traits has become a reality. A clinical study used stem cells from patients with CHM and experimented the virus abilities with an in vitro model using CHO cells, which transferred the hCHM, human CHM DNA, into mice eyeballs to view the precision of genetic transfer. The results revealed that the CHO cells had elevated levels of the REP-1 protein levels, indicating that the introduction of AAV was able to specifically target the X-chromosome and alter the CHM gene. For the hCHM, it responded well to the application of AAV, as REP-1 proteins increased with regular dosage of AAV and compared to control cells, there was a 50-fold amount of REP-1 protein levels with the treated hCHM cells, indicating that AAV is a very promising option for gene therapy (Vasireddy, 2013). A 2014 clinical trial decided to directly administer an AAV encoding REP-1 to six mature males with Choroidere mia (all with little ability to see), waiting for six months after the trial to evaluate the effects of raw AAV administration. The results reveal all of the test subjects gained eyesight from the treatment, as their lines of vision increased as well as increased levels of retinal sensitivity (MacLaren, 2014). With a single mutation in a genetic sequence, life-changing conditions, like Choroideremia, leave people impaired for the remainder of their lives. However, with the assistance of adeno-associated viruses, researchers are able to treat and cure such conditions permanently. Citations/References: Matthew D. Weitzman and R. Michael Linden (2011). Adeno-Associated Virus Biology. Retrieved December 30, 2016, from http://www.hixonparvo.info/Matt%20AAV%20book%20chaptor.pdf Manuel Gonà §alves (2005). Adeno-associated virus: from defective virus to effective vector. Retrieved December 30, 2016, from https://virologyj.biomedcentral.com/articles/10.1186/1743-422X-2-43 Susan F. Cotmore and Peter Tattersall (2014). Parvoviruses: Small does not mean simple. Retrieved January 6, 2017, from http://www.annualreviews.org/doi/abs/10.1146/annurev-virology-031413-085444 Choroideremia Genetics Home Reference (GHR). (2017, January 10). Retrieved January 11, 2017, from https://ghr.nlm.nih.gov/condition/choroideremia#genes CHM CHM, Rab escort protein 1 [Homo sapiens (human)] Gene NCBI. (2016, December 21). Retrieved January 11, 2017, from https://www.ncbi.nlm.nih.gov/gene/1121 Vasireddy V, Mills JA, Gaddameedi R, Basner-Tschakarjan E, Kohnke M, Black AD, et al. (2013) AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models. PLoS ONE 8(5): e61396. doi:10.1371/journal.pone.0061396. Retrieved January 11, 2017, from http://journals.plos.org/plosone/article/authors?id=10.1371/journal.pone.0061396 Preising, M., and C. Ayuso. Rab Escort Protein 1 (REP1) in Intracellular Traffic: A Functional and Pathophysiological Overview. Retrieved Retrieved January 11, 2017, from https://www.ncbi.nlm.nih.gov/pubmed/15370541 Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Retrieved Retrieved January 11, 2017, from https://www.ncbi.nlm.nih.gov/pubmed/?term=17698759 MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.Retrieved January 11, 2017, from https://www.ncbi.nlm.nih.gov/pubmed/?term=24439297

Essay --

Being born and brought up in Afghanistan doesn’t go particularly smoothly, especially when compared to the contemporary standards of the UK. Aside from on-going war, many outbreaks of diseases have occurred, which I have first-hand experience of. At the age of 10 I contracted the water borne disease of cholera, due to our village’s water supply being heavily contaminated. I fully recovered, however the experience left me with a spark of inquisitiveness into the importance of maintaining a clean water supply and not allowing it be polluted. Today, chemical engineers are at the vanguard of maintaining clean water supplies to where they are abundant and establishing clean water supplies to where they are scarce, alongside their many other contributions to modern day scientific breakthroughs. Having studied Physics, Maths and Chemistry, I understand the obligation chemical engineers feel to contribute to the ever expanding global society. I had already thoroughly enjoyed these subjects at GCSE level and it only seemed right to me to pursue them at a higher level; when deciding my A-Level...

Literature Review on Employment/Labour Turnover Essay

Literature Review An employee is a particular individual that was hired by an employer to perform a certain task or a job. It’s the duty and the responsibility of the employee to perform the tasks that are being directed towards him/her by the employer and the employer must ensure that in return the employee is properly appraised for performing the task well. Employee appraisal is a vital part of the relationship between the employee and the employer. Employee appraisal is a source of motivation provided by the employer towards the employee to show whatever that he/she is doing or have already done is being appreciated by the company and that they wants the employee to keep up his/hers good performance. A well satisfied employee is always looking forward to perform much better day in day out and is willing work for the employer as long as he/she can. A demotivated employee’s enthusiasm is much lesser than a motivated employee’s enthusiasm. Enthusiastic behavior at workplace not le ads up to great individual performance; it also enlightens the other individual that surrounds the particular enthusiastic employee. A less friendly workplace can be bad for such individual’s, maybe even the management’s harsh work ethic’s or the work load that is being diverted towards the employee’s from the top management can ruin the enthusiastic atmosphere of a work place. These sorts of phenomena’s can lead up to employee turnover. There are two known types of employee turnover scenarios that can occur within an organization. Involuntary turnover is the turnover that occurs for employee termination, absenteeism or due to violations of the workplace policies. Voluntary turn occurs when and employee leaves a particular organization on his/hers own accord. In such incidents the employee can have number of reasons for leaving the particular organization. Employee turnover is derived to be bad for the performance of an organization. Researches have been conducted throughout the years to sort out the effects of employee turnover by many researchers worldwide. Such as, A Meta-Analysis of Antecedents and Correlates of Employee Turnover by Rodger .W Griffeth, Peter W. Hom and Stefan Gaertner (Year of 2000) The researchers started off with searching all published articles related to predictor turnover-relationships in the year of 1990’s with the use of computerized sources. They also researched organizational sciences with the use of various books written under the particular subject. And decided to add the  public correlations that were found out as solutions if they were to meet the criteria that is given below, 01. Actual turnover (except for the job leavers) was assessed 02. The study used a predictive design that collects predictor measures before Turnover occurrence. 03. Turnover was measured at the individual level of analysis Through their research they were able to find out that the reasons behind the employee turnover was mostly, job satisfaction, organizational commitment, job search, comparison of alternatives, withdrawal cognitions, and quit intentions. â€Å"Employee Turnover-a Study of its Causes and Effects to Different Industries in Bangladesh – Rezaul Hasan Shumon† In this particular research the researcher have considered analyzing some major factors that he thinks that plays a major role in causing employee turnover. The economy, characteristics of the job, demographics, the person, a bad match between the employee’s skills, lack of opportunity for advancement or growth, feelings of not being appreciated, inadequate or lackluster supervision and training and unequal or substandard wage structures. Through this research the researcher was able to find many causes for employee turnover, they are, irregular payment, less salary, improper management, job location, better job option and insufficient medical allowance is the causes that were found out to be the major reasons for employee turnover. And the researcher suggested some solutions that were voted the most by the employees as solutions that they prefer the most. Such as, Standard salary structure, standard increment and medical facilities were amongst the top three voted solutions b y the employees. Harris at al. (2002) According to Harris’s research, he came up with a theory stating that higher employee turnover rate of a firm, lower the rate of the firm’s ability to provide incentives to its employees, and ultimately it affects the firm by reducing its productivity. He also found out that the theory of job matching  postulates that turnover is a solution for both the employees and the employers can adapt to in order to avoid being restricted in sub-optimal matches. He also states that the issue of trying maintain the workforce stability and flexibility on an even scale is way too much of pressure to handle that it will easily point out the rise of an optimal turnover rate.

Personal Code Of Ethics Essay - 1154 Words

My personal Code of Ethics includes Respect, Integrity, Fairness and Caring. Some situations in life may be subjective, but what matters is making sure the results are fair for all parties. Through the years I have found identifying and setting personal values to be increasingly difficult since the right decisions aren’t always appeasing to all that are involved. Every decision made or not made is definitive of myself, and in believing so removing the need to conform to standards imposed by society. Honesty plays a vital role in my personal code of ethics requiring integrity, especially in dealing with those near and dear to me. Integrity plays a vital role in my ability to hold myself accountable for any decisions or actions I make.†¦show more content†¦It is my belief that when most of us near the end of our days of adolescence we all too soon realize this ideology may be flawed in theory, that life will not always return what is given. Some may say this is unfair, in fact most will, but fairness and impartiality is a trait that should not be omitted from anyone’s arsenal of moral ethics. I’ve learned that working in a business has challenge when it comes to making ethical and just decisions My current profession as a banker has given me great insight into the rewards in being impartial regardless of surrounding circumstances. Working in any customer service capacity will test your moral fortitude on more than one occasion. My experiences of both ends of the spectrum in a professional capacity or otherwise have proven that if you make it a priority to do right by others despite objections, it will burden you much less than the outcome of acting impulsively out of spite. 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