Gene Therapy for Haemophiliacs

Gene Therapy for Haemophiliacs Introduction The main goal of gene therapy is to replace a mutating gene that causes disease, with a healthy copy of the gene or inserting a new gene into the body to help fight the particular disease. In addition, gene therapy is a promising treatment option for a number of diseases such as inherited disorders, different types of cancer and viral diseases. (Samuel Murphy, 2008) Nonetheless, the technique is still under tests, for the reason that it stays risky. According to Professor Nathwani, there is no confirmation of any side effects in patients who already have been treated with gene therapy, still, long-term-follow-up for the adults patients is required before the therapy can be approved for children. Gene therapy is currently only being tested for untreatable diseases. The most challenging one for the gene therapy is Haemophilia. It is yet not accomplished, however there is a significant progress of improvement. (National Library of Medicine, 2016). Haemophilia is a bleeding disorder resulted from low functional blood levels which slow down the blood thickening (clotting). Individuals with this condition experience prolonged bleeding during surgery, after a bad injury or even after they had a tooth pulled out. In very few cases of Haemophilia, prolonged bleeding occurs after minor trauma or in absence of any. In situations like this, bleeding into the brain, joints, or other internal organs could cause serious complications (National Library of Medicine, 2012). Haemophilia overview, diagnosis and treatment options There are two principle types of Haemophilia A and B. Haemophilia A, additionally called, factor VIII, is a hereditary disorder caused by the absent or defective factor VIII (clotting protein). (National Haemophilia Foundation, no date). Haemophilia B, likewise, called factor IX (Christmas disease) is a hereditary disorder caused by the absent or defective factor IX (also a clotting protein), approximately 1/3 of the cases, in both types, are caused by a spontaneous change in a gene. The X and Y chromosomes are called sex chromosomes. The haemophilia gene is carried in the X chromosome. Males have XY chromosomes, X from their mother and Y from their father. Females have two X chromosomes, one from their mother and one from their father. In this case, if a boy has haemophilia gene in his X chromosome from his mother, he will have haemophilia. However, fathers cannot pass haemophilia to their sons. At the point when a female has haemophilia gene on only one of her X chromosomes, impli es as a carrier and can only pass the disease to her children. (National Haemophilia Foundation, no date). Haemophilia is more common in males than females. Nowadays, 1 in 5000 males worldwide are born each year with Haemophilia A and approximately 1 in 20 000 with Haemophilia B.(National Library of Medicine, 2012). The most convenient way to diagnose Haemophilia is to find out if the disease is in the family history, then it would be very possible for the new-born to be infected as well. The other ways to diagnose the disease is to do blood tests to determine any missing clotting factors or low levels, and which ones are causing the problem, and DNA test, which is looking for mutations who cause the haemophilia and eventually compare it to the carrier (parents). The main treatment for haemophilia is called replacement therapy (gene therapy), involves injecting missing clotting factor proteins into the affected persons bloodstream. These proteins help to repair normal blood clotting but often the therapy must be repeated frequently (Hemophilia Federation of America, no date). Gene therapys future Over the past 15 years an empowering data from successful trials on animals and humans have finally resulted incredible accomplishment in patients with severe Haemophilia A and B. Researches from the University College London and St. Jude Childrens Research Hospital organised a team to investigate a potential gene therapy improvement. The investigation was focused on 6 males with severe Haemophilia B. All patients received one-time intravenous infusions of the gene vector at different doses. As indicated by the review, the men were producing clotting factor IX at less than 1% of normal levels. After the gene therapy each patient was tested and the result showed a significant improvement factor IX at between 2% and 11% of normal levels. According to the scientists, gene therapy would enhance the outcomes significantly more after proceeded regular therapy. (National Institutes of Health, 2011). Most recently in 2016 another experiment took place, made by BioMarin. The case included 8 patients with severe form of Haemophilia A. The released information was demonstrated that 2 high dose patients had an increased levels of Factor VIII above 50 percent. Every one of the patients received a single dose of BMN 270 (new investigational drug), 6 of whom have been treated at the highest dose of 61013 vg/kg. The full treatment lasted up to four months. After the last observation, according to the researchers, the highest dose levels of experienced increasing Factor VIII ranged between 4 and 60 percent. All high dose patients had a significant improvement. Also, according to the World Federation of Haemophilia, factor levels were variating in the normal ranges. However, there was a slight problem with some of the patients. BioMarin noticed that some patients had expanded liver enzyme levels (because of the long period of the therapy), prophylactic corticosteroid therapy was given and according to the company, the enzyme levels dropped back to normal. (Ben Adams, 2016). Third significant test included clinical trials managed by Professor Amit Nathwani of University College London and demonstrated an actual hope for haemophilia B patients. In this experiment, each patient received one of three doses of a gene therapy vector to deliver the genetic material for making Factor IX. Factor IX levels increased in all individuals with severe haemophilia B, the following gene therapy remained stable and lasted for more than 4 years. Amazing results and incredible improvement. Moreover, the six patients who received the highest gene therapy dose, remained high blood-clotting protein levels from less than one percent of normal to five or more, which reduced the spontaneous bleeding to 90 percent. According to Professor Nathwani, the unimaginable outcomes permitted the patients to live ordinary life and eventually practice their favourite sport without the need for Factor IX replacement therapy or any daily medication. (New England Journal of Medicine, 2011). Th e following graphs are showing the gained results from the experiment: Figure 1. Factor IX activity after gene transfer (The New England Journal of Medicine, 2014) Figure 2. Number of annual bleeding episodes (The New England Journal of Medicine, 2014)         Ã‚   Both of the graphs are demonstrating the improvement in each patient. Scientists do numerous trials, experiments and researches each day to develop the gene therapy technique. Many evidences of clinical efficacy are currently observed, more work is accomplished and more researches are made. Gene therapy has guaranteed the advantage to those who suffer from Haemophilia, however, this advantage has not been acknowledged yet due to the fact that this field is still young. Although, the majority of the taken experiments and their results are quite encouraging and for the past twenty years numerous trials demonstrated significant improvement in the patients (Christopher Doeing, 2009). Besides, the possibility of gene therapy treatment holds great hopes and has been successfully used to cure some diseases, however, the technique is still under research to make sure it will be safe and effective in the future with no life threatening side effects. It is believed that the gene therapy will l ead to patients having rare bleeding episodes or even begin producing their own clotting factor. Therefore, more experiments have to be done and researches should take care for future side effects or inherited disorders (Mark Derewicz, 2015). All the recent examples of severe haemophilia and the incredible improved process toward a cure showed how much potential this technique has. Is it going to be the next treatment of choice? In my opinion, yes. The ability to insert a foreign gene into the body, and make it possible to approach a new treatment or the ability to control one of the most dangerous human diseases, is one of the first steps to complete success. According to Jack McCain, in 1990 Dr. Anderson carried the first gene therapy trial and cured a hereditary disease of the immune system in a 4-year-old-girl. Today, the patient is still alive and doing very well. This medical case along with the analyses stated above, prove that gene therapy one day can become a staple of 21st century medicine (Jack McCain, 2005). Conclusion According to Graham Templeton, gene therapy researchers have invested decades to develop this amazing technique. Nowadays, gene therapy can be life-changing for many people around the world. For the past 50 years new technologies have been used to control bleeding disorders, however gene therapy offers the possibility of a cure. As stated, gene therapy might be the next sensational discovery for a treatment not only for haemophilia but cancer, other inherited disorders or even HIV (Graham Templeton, 2016). For the past few decades scientists had some successful developments such as: discovering new treatments, inventing new techniques to investigate particular diseases, however the most important one is to be able to treat untreatable diseases, and according to all the experiments stated above, gene therapy is a promising technique, not only for correcting defects, but also for treating cancer and other harmful diseases. More work needs to be done before gene therapy can become a tre atment of choice and this may take another decade until scientists are completely sure that there will be no harmful effects by choosing this technique as a possible cure of Haemophilia.

Diversity and Difference in Early Childhood Essay

Personal interest: My first awareness of racial identity and diversity occurred when I was in Year 3. Having being raised acknowledging acceptance of people of racial or cultural difference my thoughts of children of colour were positive and impartial. However, one day a boy in my class of Sri Lankan descent got into trouble with another student, but only the Sri Lankan boy was asked to go to the principal’s office. During our lunch break he came over to a group of us and told us that he thought he was the one that got into trouble ‘because he was ‘black’’. I remember thinking to myself, ‘why would he get into trouble just because he was black? ’ It was in fact that both boys went to the principal’s office, just on separate occasions. This was my first memory of someone thinking that they were being singled out or getting into trouble due to belief of skin colour dissimilarity and racial stereotypes. I’ve been aware of racial diversity ever since. Now that I have an opportunity to be a part of children’s learning and development I want to learn more about diversity and make a difference in children’s perspectives of themselves and others. Discussion: As educators in early childhood, it is crucial that we acknowledge and respect that children’s personal, family and cultural histories shape their learning and development. The increase in racial, ethnic, and cultural diversity in educational centres is reflected in many early childhood classrooms. Although the diverse composition of early childhood classrooms may bring challenges, it also introduces many opportunities for educators, parents, and children as we need to value and appreciate difference and variety as a positive attribute in all educational and social environments (Ashman and Elkins 2008). As adults, being ‘different’ is a decision to make a personal statement; such as deciding to change a hairstyle, get a tattoo or by wearing alternative clothing. It is one thing to be different by choice, and another for a child to discern themselves as being different based on their physical features, cultural of religious differences. One of the most stimulating aspects of early education is observing and supporting young children as they develop their individual identities. This development takes place within different social contexts where issues relating to human diversity and difference impact significantly on children’s understandings and ways of being in the world. Arguably, our education begins when we are first able to detect causes and consequences, and continue to form the basis of our identity, behaviours and knowledge of the world around us. Glover (1991) in the early 1990s found that as 2-3 year old children became aware of difference they simultaneously develop positive and negative feelings about the differences they observe. For example, racial awareness impacts on their perceptions of skin colour and on their preferences in the social relationships they initiate and foster with other children. An Australian study conducted by Palmer (1990) exemplifies how preschool children were able to make negative judgements based on racial characteristics of young Aboriginal children. Children were reportedly saying ‘You’re the colour of poo†¦ Did your mum drop you in the poo? ’ This observation suggests that children as young as 2 years old are becoming aware of diversity and differences of others, and these judgements children are making are often affecting their ability to make sound judgements of others as their perceptions of reality are distorted. Although Palmers study was conducted in 1990, there has been a significant increase in racial awareness since the 1980s of the importance of early childhood education policies, practices and curriculum aiming to positively reflect the diverse cultural identities of children and their families. Today, the embracing of children’s lives is a central focus of the different philosophies which foster early childhood education in Western society, such as the ‘anti-bias curriculum’ which emerged from the United States (Derman-Sparks and the A. B. C. Task Force, stated in Robinson 2006 p 2) and also in the perspectives of Reggio Emilia. In Australia there has been a broadening of cultural influences which has been referred to by Ashman (2008) as ‘the cultural mosaic’, which refers to those who have migrated maintain their homeland traditions while embracing the new norms, values and practices within the country. Furthermore data collected by the Australian Bureau of Statistics (2008) show that around 25% of Australians were born in other countries, nearly half the population has direct links with relatives born overseas, and over 2. 5 million people speak a language other than English at home, which should clearly illustrate to educators that learning developmental experiences need to be appropriate for multicultural children to be involved in. As stated by Robinson (2006), the early childhood years are fundamental years in the growth and development of a child’s cognition, language, social, emotional and physical competence. Early childhood educators are in an ideal position to make a positive difference in the lives of children and their families. My emerging philosophy would be to teach children to be critical thinkers specifically about prejudice and discrimination to encourage children to develop the skills to identify when something they have said or done is unfair of hurtful to another. Also to model the behaviours and attitudes I would want children to develop, particularly in situations that can either promote prejudice or inhibit a child’s openness to diversity. Furthermore, I would aim to expose children to role models from their own culture as well as to those from other cultures to encourage appreciation of their own cultural identity, as well as different cultures. As professionals who work with families, our willingness to talk openly about identity and to help foster a positive sense of self in children can make an enormous difference in affirming the rich diversity within our community and help children form bridges across cultures and traditions. The more that children have a solid grounding and understanding about who they are and where they came from, the more they learn to value differences of cultures different from their own, and the closer we get to building a world of respect of multicultural differences. Ashman, A F, Elkins J 2008, ‘Education for Inclusion and Diversity’, 3rd edn, Pearson Education, Frenchs Forest, NSW. Davis, B M 2009, ‘The Biracial and Multicultural Student Experience: a journey to racial literacy’, Corwin, Sage Ltd, USA. Glover, A 1991, ‘Young children and race: a report of a study of two and three year olds’, Australian Catholic University, Sydney. Pulido-Tobiassen, D, Gonzalez-Mena, J 2005, ‘Learning to Appreciate Differences’, Early Childhood Today, vol. 20, issue 3, viewed 2 April 2011, retrieved from Victoria University Database. Robinson, K 2006, ‘Diversity and Difference in Early Childhood Education’, Bell and Bain Ltd, Glasgow, viewed 1 April 2011, retrieved from Ebrary database.

Harry Potter And The Order Of the Phoenix Essay

J. K. Rowling is the author of the Harry Potter books series that began with the book Harry Potter and the Sorcerer’s Stone while Warner Bros. owns the rights to produce the movies based upon the book series. The latest outing of the movie version of the book series is the adventure filled â€Å"Harry Potter And The Order Of The Phoenix†, movie number 5 of a 7 series film outing. Released in the year 2007, the CGI heavy film stars Daniel Radcliffe in the titular role together with Emma Watson and Rupert Grint portraying the highly important support characters of Hermione Granger and Ronald Weasley respectively. The now more light colored movie setting, when compared to the previous directorial jobs of Chris Colombus and Alfonso Cuaron, was imagined and crafted by the imagination of first time Harry Potter director David Yates. In order to be able to follow the story as it unfolds throughout the movie, one must be an avid Harry Potter book or movie follower for the storyline of the movie is not for the uninitiated and will leave any viewer without a background in the story series feeling frustrated and left out of some of the seemingly inside jokes being thrown around in the movie (e. g.  Who are you and what have you done with Hermione Granger? ) The film picks up the story from where the prior movie, â€Å"Harry Potter And The Goblet of Fire† left off. Harry is coming to terms with the death of Cedric Diggory at the end of the previous movie while also trying to figure out who he really is as a person. Is he a bad person trying to be good or, as his Godfather Sirius Black told him â€Å"just a good person to whom bad things happen? † All of his personal doubts make him choose isolate himself from even his closest friends because of the way most of the school views him as a liar. As a character, Harry develops like any normal teenage boy. He dabbles in the typical first love, first kiss, and often rebellious streak that his main nemesis, Lord Voldemort, portrayed in the film by the superb British actor Ralphe Fiennes, often takes advantage of. I observed this particular movie to be, in a a way, the coming of age for the students of Hogwart’s School Of Witchcraft and Wizardry. Although the screenplay writer Michael Goldenberg took tremendous amounts of liberties in the retelling of the book, the main plot and lessons from the book still managed to translate well to the big screen. After all, it is no joke trying to translate an 870 page book to the big screen with a running time of almost 3 hours. Die hard fans of the book will probably scream â€Å"Sacrilege! † at the way certain key elements that were perceived in the book, such as the magic mirror Sirius gave to Harry on Christmas Day, or the jinxed DA coins that Hermione gave to the member of their little organization in order to prevent the members from telling about what they were up to in the Room Of Requirement. But I guess that one will realize that all the key elements were retained within in one way or another. The fans will also most likely not appreciate the way certain duties in the book seemed to have gotten reassigned in the movie. For example, in the book, it was a member of the DA who told Prof. Umbridge about where their organization meets, not Cho Chang. What did help the story to move along quite well on film is the total cutting out of the minor subplots in the book that really had no place in the movie version. The real magic of the Harry Potter movie series seems to lie in the way that author J. K.  Rowling has managed to write a book series that mirrors the problems facing teenagers in such a way that the readers and the movie viewers who grew up with the story will be experiencing the same things almost simultaneously in real life. The movie has real lessons to teach, such as standing up and fighting for what one believes in, believing in yourself and accepting the consequences of your actions, and finally, knowing that there is always an easier way out of things but that may not always be the right path to take.

The Metamorphosis By Franz Kafka - 1325 Words

In The Metamorphosis, Franz Kafka accounts the metamorphosis of Gregor’s care for his family. Initially, Gregor cares for his family out of an alternative motive, to gain acceptance, rather than a genuine love for his family. Prior to his physical metamorphosis, Gregor commits his life to care for his family’s financial needs. He willingly gives the majority of his income to his family. After Gregor’s physical metamorphosis, his care’s transformation begins. As a dung beetle, Gregor finds it impossible to care for his family. This change in his life forces him to see the many ways in which he hinders his family’s physical and mental growth. Over time, he learns how he must understand life from his family’s perspective in order to genuinely care. At the end of his life, Gregor thinks loving thoughts toward his family, even though he did not receive acceptance from his family. Although Gregor commits his life to care for his family, he unknowin gly cares to gain approval until his care transforms into selfless love. By taking on his family’s financial needs, Gregor seeks to please his parents through his sacrificial care. In his mind, he thinks that if he lives a useful life, then he will find approval from those around him, namely his family. So, Gregor delves into his work with much enthusiasm in order to pay off his parent’s accumulated debt. With a considerable amount of income, Gregor purchases a â€Å"beautiful apartment† (Kafka 1891) for his family. After providing for hisShow MoreRelatedThe Metamorphosis by Franz Kafka1052 Words   |  4 PagesFranz Kafka wrote one of his most popular books, The Metamorphosis, during the literary period and movement of existentialism. His novella stresses many existential ideals. The most predominant ideal that is seen through Gregor Samsa and his father in The Metamorphosis is that choice is the opportune of the individual. One’s ultimate goal in life is to successfully find a balance between work and leisure. It is through the juxtaposition of Gregor Samsa and his father, the conceding tone of the authorRead MoreThe Metamorphosis By Franz Kafka867 Words   |  4 Pagesincluding rapid growth spurts. Metamorphosis is a biological process by which an animal physically develop after birth or hatching. Involving a conspicuous and relatively abrupt changes in the animal’s body structure through cell growth and differentiation. The author Franz Kafka, who relatively wrote little in his short life and who published less has been enormously influential on later writers. He is considered an export of German expressionism. 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In the novella â€Å"The metamorphosis†, â€Å"Kafka’s personal history† has been â€Å"artfully [expressed]† (Classon 82). The novella was written in 1916, before the World War 1 in German {Research}. When the novella was written, in the EuropeRead MoreThe Metamorphosis By Franz Kafka1380 Words   |  6 Pagesâ€Å"I cannot m ake anyone understand what is happening inside me. I cannot even explain it to myself†: A Psychoanalysis reading of â€Å"The Metamorphosis† by Kafka The Metamorphosis is known to be one of Franz Kafka’s best works of literature. It demonstrates the interconnection between his personal life and the protagonist, Gregor Samsa, of â€Å"The Metamorphosis.† Franz Kafka was born in 1883 and grew up in a financially stable Jewish family in Prague. He was the only son left after the death of his youngerRead MoreThe Metamorphosis by Franz Kafka656 Words   |  3 PagesMuch of Franz Kafkas story â€Å"The Metamorphosis† spends its time talking about Gregor as he struggles to live his new life as a bug. Gregor tries to find a analytical reason as to why he has taken upon this form but later on finds on that he has to accept the truth. From being an ordinary travel salesman and provider for his family to a abomination, Gregor becomes hopeless as he cant work or provide for his family. His new life as an insect causes a hardship as he is faced with isolation from hisRead MoreThe Metamorphosis By Franz Kafka783 Words    |  4 Pages In the story â€Å"The Metamorphosis†, written by Franz Kafka, Gregor’s family represents the causing factor that prompts Gregor to become a cockroach. Gregor’s family is a symbol of a repressive structure that inhibits Gregor’s every thought and action. When Gregor gets up in the morning to get ready for work and finds that he has been transformed into a cockroach, he ponders about how maybe he should just go in to work late and get fired, but then realizes that he cannot because â€Å"if [he] were not holdingRead MoreThe Metamorphosis By Franz Kafka947 Words   |  4 PagesThe Metamorphosis is a novella written by German author Franz Kafka which was first published in 1915. The novella tells the story of Gregor Samsa, a traveling salesman who one day awoke to discover he had transformed into an insect like monstrosity. Throughout the story, Gregor struggles with the horrible prospect of coming to terms with his situation, as well as copin g with the effects of his transformation, such as the fact that his family is repelled by his new form, and that he is no longerRead MoreThe Metamorphosis by Franz Kafka1021 Words   |  4 PagesFranz Kafka’s, The Metamorphosis, is a novella about Gregor Samsa, a man who devotes everything to fulfilling the needs of his family. Kafka’s existentialist perspective on the meaning of life is illustrated through the use of the protagonist of Gregor Samsa. Existentialism is a philosophy â€Å"concerned with finding self and the meaning of life through free will, choice, and personal responsibility† (Existentialism). Gregor is unable to fulfill the existentialist view of finding meaning in one’s life;Read MoreThe Metamorphosis By Franz Kafka1050 Words   |  5 PagesOn the surface, â€Å"The Metamorphosis† by Franz Kafka is an evocative story of a man transformed into a â€Å"monstrous vermin†. It seems to focus on the dark transformation of the story’s protagonist, Gregor, but there is an equal and opposing transformation that happens within Gregor’s family. Although Gregor has physically changed at the beginning of the story, he remains relatively unchanged as the novella progresses. The family, on the other hand, is forced to drastically change how they support themselves