Friday, March 29, 2019
How Does Technological Advancement Eliminate Genetic Disease
How Does Technological Advancement Eliminate Genetic DiseaseAmy ChongHow Do Technological Advancement, Combined With Our Extensive K straight offledge From The Human Genome Project, Help Us To Eliminate Genetic Diseases?Abstract The labour of this project is to answer the enquire how do technological advancements, combined with our extensive knowledge from the Human Genome Project, helper us to eliminate brokertic maladys? I want to find forth(a) more ab step up genetic unsoundnesss, such(prenominal) as myotonic dystrophy and Cystic Fibrosis, and the stage that scientists ar at in curing patients. carsick explore the ethical issues of possible gene redaction in the future. Ive carried out a lot of look on the back intellect of genetic diseases and unmatched could speculate that gene editing could eliminate diseases in spite of appearance the next ecstasy or two, if technologies continue to expand at the current rate. This report has en subjectd me to cognize the work o f scientists and furthermore, encouraged me to pursue a c ber in STEMDS1. footHi flooring of the Human Genome Project The Human Genome Project was a ground breaking discovery in the understanding of how we evolved as benevolent beings (C arey, 2015). Their aim was to map and understand all the genes for scoreing human beings by difference through 3.2 billion bases. A genome cigarette be defined as an beingnesss complete set of deoxyribonucleic acid, including all of its genes (Genetics office Reference, 2016). This inquiry has illuminately revolutionised genetics as the cost of gene editing and testing has decreased by 99 percent (Kurzgesagt, 2015DS2).Methodology My research is based on indirect qualitative research from published journals, scientific reports and books. It didnt cost any coin to conduct. Ive approached my question through Jennifer Doudnas lens on future engineering such as CRISPR to eliminate disease. Theyre all diseases that set out known genetic caus es, and we now keep back the technology that prat repair those regenerations. (Jennifer Doudna, 2016). Ill apply CRISPR in contrast to current technologies used.DNA Coding What is the genetic tag? DNA is made up of many nucleotides containing three molecules a deoxyribose pentose sugar, a orthophosphate group and a nitrogenous organic base. These bases are Cytosine (C), type A (A), Thymine (T) and Guanine (G) (Toole, 2015).How does genetic codes link to genetic diseases?Three bases code for an amino acid. The code is non-overlapping which reveals thithers only if twenty different amino acids fork up in proteins. Changes to the base sequence or quantity results in a mutation. There are four types of mutations that can occur during DNA semi-conservative take nonsense, missense, silent and frame shift. Any of these changes to the DNA sequence leads to gene mutation(Toole, 2015). This is shown in figure one.Figure one Effects of single base mutation In DNA CodeDS3.Myotonic Dy strophy From the Genome Project, its evident that the isolation of a number of genes is associated with Myotonic Dystrophy. Myotonic Dystrophy is a dominant disorder. Patients ache from prolonged contractions, therefore are unable to relax their go acrosss (Genetics Home Reference,2016). The symptoms head start to appear during adulthood. According to the Congenital Myotonic Dystrophy in Britain research, (1975) there are two types of Myotonic Dystrophy. character one involves weak muscles touch on the lower legs, hands, neck, and saying. Whereas type two is associated with the muscles of the neck, shoulders, elbows, and hips. The two differ due to mutations in different genes (Harper, 1975).Figure two (in appendices) reveals the muscle speciality of those who suffer from this disease in contrast to a person, with average height and build, with the muscle strength of 38kg (Grassino etal.,1997135).How does Myotonic Dystrophy differ from other genetic diseases?This genetic dis ease has different characteristics to a typical dominant disorder. Normally, the symptoms of genetic diseases dont get worse when they are passed on from parent to child. This is the case with Myotonic Dystrophy. The disease is crotchety due to the gene containing minuscule sequences of DNA thats tell three-fold of measure. Type 1 is caused by a mutation in the DMPK gene, which appears to regulate the work and function of structures inside muscle kiosks. The mutated DMPK gene contains three DNA nucleotides CTG repeated in the ranges from 5 to 34. On the other hand, type two is caused by CNBP gene. This consist of four DNA nucleotides CCTG repeated fewer than 26 times (Carey, 2015).What technologies sacrifice been made to eliminate Myotonic Dystrophy?Currently, theres no resume or specific handling for Myotonic Dystrophy but there is a promising step forward toward muscular Dystrophy intervention (the University of Rochester Medical Centre, 2012). Their research involv es reversing the symptoms by creating synthetic compounds that will eliminate a buildup of toxic RNA in muscle cells. This was tested on mice and results showed that symptoms were decreased for up to one year. According to Charles Thorntom (2012), these results give us strong encouragement about the possibility of developing a treatment. Is testing mice the best research method? How will we know if the research would eliminate the genetic disease in humansDS4?What are the implications of the research?As the mend is still to be found, it is not possible to test on humans due to unfathomable RNA targets involved in disease the question is how to find small molecules that bind to them, (Disney,2012). Because of limit slight RNA targets, it complicates the target amplification sy block. This is an enzyme-medicated operate, therefore, millions of targeted enzymes are copied within several hours the copies made would be used for research. As a result, the techniques are sensitive to contamination. This could lead to false-positive reactions which cause implications for future research (McClatchey, 2002).What has been done to stay false-positive reactions?Perhaps the University of Rochester Medical Center should consider victimisation Kaspersky Lab technology to test for false-positive reactions. The machine can automatically create files for results that are commonalty or not. Results that are not common are ignored and habit affect research. This upgrade in technology would make their results more clear (Kaspersky Lab, 2015). But should they accept the false positive results as side do of their research? Could these false positive results be significant in their research?Cystic Fibrosis Cystic fibrosis is an inherited disease causing a build up of mucus to damage the bodys organs. Mucus is a lubricant that protects the linings of the airways and digestive sy stanch. People with cystic fibrosis, produces thick mucus that clogs the airways causing problems with breathing. Over time, it can permanently damage the lungs by producing scar tissue papers. Scar tissues are thicker and less elastic than normal tissues so the tidal volume is reduced (Genetics Home Reference, 2016).Which codes causes Cystic Fibrosis? If youre missing two letters out of 3.2 billion of the sequence, ATT CTT GATT, you have cystic fibrosis (Sabatini,2016). Mutation in the CFTR gene disrupts the flow of chloride ions across cell membrane, which is necessary to produce freely flowing mucus (Genetics Home Reference, 2016).What technologies have been made to eliminate Cystic Fibrosis?From the Human Genome Project, we know which genome codes for lungs, and with the help of stem cells and tissue engineering, scientist believe it is possible for human lungs to be successfully great(p) in a lab for the first time, (Medical lates Today, 2014). Due to shortfall of donor organs, using stem cells (which are able to differentiate in to other cells) is a desirable approach f or organ replacement. Whilst the field of tissue engineering has successfully reconstructed cartilage frameworks for ears and bones in the skull and face they struggle to use stem cells to grow lungs thatll survive and function correctly (Lui etal.,2013). This means maintaining blood and oxygen supply inside the body without coagulate (The Guardian, 2015). allow growing organs give a better eccentric of life to those who suffer from Cystic Fribrosis? Would this be as effective as gene editing technology?Gene Editing engine room CRISPR (Clustered regularly Interspaced Short Palindromic Repeats)CRISPR-Cas9 is a technology, using bacteria, that enables parts of the genome to be cut out and replaced, or to add parts of DNA sequence.The CRISPR-Cas9 system consists of two aboriginal molecules enzyme Cas9 (a molecular scissors that cuts a specific location of DNA) and RNA (The New York Times, 2015).Figure three (in appendices) will show the steps of gene editing. erstwhile the DNA is edited, the mutation causing the genetic disease would be eliminated (Your Genome, 2016).Technology success Layla recovered from leukaemia thanks to gene-editing technology. For children as young as Layla, the cure rates are only 25 per cent (Sujith Samarasinghe, 2015). As a result, her doctors proceed to gene therapy to removing immune cells from her body and genetically engineer them to storm crab louseous cells (Nature, 2015). She received T-cells (ex drived to a DNA-cutting enzyme called a TALEN) from a healthy donor. The performance was done so that the modified T-cells injected were not recognised as foreign. T-cells are significant because receptor CAR19 helps programs the T-cells to kill any cells with protein CD19 found on cancer cells. Is the process this simple?Theres a risk of the enzyme being cut the wrong(p) place resulting cells turning cancerous (New Scientist, 2015). Research on gene editing is now expanding to minimise this risk. Soon there are a all in all bunch of other disorders we cure (Qasim, 2015). Since she is the first person to be healed using gene editing does this mean its safe to proceed this process on other diseases?Ethical IssuesObjective of Gene EditingAs the technology is at its early stages, scientist are creating a modified variate of Cas9 thatll change specific letters to remove the mutation that caused genetic disease. In most eye, gene editing is unjust since the technology is limited to individuals. Researchers are mainly testing on reproductive cells to prevent children from having the condition. Theyre plan to digest human trial by the end of 2016. Do we know plentiful information for humans to participate as the effects are occasional? (Your Genome, 2015).Future contemporariessAccording to David Baltimore (2015) we sense that we are close to being able to alter human heredity. CRISPR is opposed by a lot of passel as they want new laws and regulations to protect the human gene pot of our entire spe cies. The process is irreversible. If technology advancement and researchers have enough information to create modified humans, we have to consider the cost. This is a valid lead as wealthy parent maybe tempted to treat unwanted characteristics that are not actually diseases. Do we want stronger, smarter, taller children with specific colour eyes? Could designer babies be the answer to eliminate genetic diseases? These are the questions that pose potential flaws is the advancement of technologyDS5.ConclusionGene editing research and technology advancement is the step forward in eliminating genetic diseases. From my selective describe of genetic diseases such as Myotonic Dystrophy and Cystic Fibrosis, we can see technologies such as growing organs using stem cells and synthesis of compounds to cure disease are making progress. The focus of gene editing will an effective treatment if the trials are successful. This is the beginning of revolutionising human genome and eliminating gen etic disease as a whole.ReferencesCarey.N, (2015). Junk DNA. London simulacrum Books Ltd. Pages 7-11.CNBC, (2016). Editing our genes to cure not just treat disease. Online forthcoming at http//www.cnbc.com/2016/05/26/editing-our-genes-to-curenot-just-treatdisease.html Accessed 31 Aug. 2016.Genetic Home Reference, (2016). Myotonic Dystrophy. Online Available at https//ghr.nlm.nih.gov/condition/myotonic-dystrophy Accessed 29 Aug. 2016.Genetic Home Reference, (2016). What is a genome? Online Available at https//ghr.nlm.nih.gov/primer/hgp/genome Accessed 20 Aug. 2016.Grassino etal. (1997). Relationship Between Chronic Hypercapnia and Inspiratory-Muscle flunk in Myotonic Dystrophy. Am J Respir Crit Care Med, Online Volume(158), pages 133-137. Available athttp//www.atsjournals.org/doi/full/10.1164/ajrccm.156.1.9509041 democube-epdf Accessed 31 Aug. 2016.Harper,P. (1975). Congenital myotonic dystrophy in Britain. Archives of Disease in Childhood, Online Volume(50), pages 505-513. Avai lable athttp//adc.bmj.com/content/50/7/505.full.pdf Accessed 29 Aug. 2016.Kaspersky, (2015). Kaspersky Lab Patents Automated False-Positive Testing Technology base on Machine Learning Algorithms. Online Available at http//www.kaspersky.com/about/ intelligence activity/product/2015/Kaspersky-Lab-Patents-Automated-False-Positive-Testing-Technology-Based-on-Machine-Learning-Algorithms Accessed 29 Aug. 2016.Kurzgesagt In a Nutshell, (2016). Genetic Engineering Will Change Everything Forever CRISPR. Online Available at https//www.youtube.com/watch?v=jAhjPd4uNFY Accessed 11 Aug. 2016.Live Science, (2013). DNA Definition, Structure Discovery. Online Available at http//www.livescience.com/37247-dna.html Accessed 20 Aug. 2016.Lui, Yunying etal.(2013) Generation of functional organs from stem cells. BioMed Central, Page 1.McClatchey,K. (2002). Clinical Laboratory Medicine. second Edition. Philadelphia Lippincott Williams Wilkins, Page 1237.Medical News Today, (2014). Human lungs successf ully grown in a lab for the first time. Online Available at http//www.medical tidingstoday.com/articles/272763.php Accessed 29 Aug. 2016.Myotonic Dystrophy Foundation, (2012).SCIENTISTS CREATE POTENT MOLECULES AIMED AT TREATING MYOTONIC DYSTROPHY. Online Available at http//www.myotonic.org/scientists-create-potent-molecules-aimed-treating-myotonic-dystrophy Accessed 29 Aug. 2016.National Human Genome Research Institute, (2012). A New Five-Year stick out for the United States Human Genome Program. Online Available at https//www.genome.gov/10001476/human-genome-projects-fiveyear-plan-19931998/ Accessed 29. Aug. 2016.Nature, (2015). Leukaemia success heralds wave of gene-editing therapies. Online Available at http//www.nature.com/news/leukaemia-success-heralds-wave-of-gene-editing-therapies-1.18737 Accessed 31 Aug. 2016.New Scientist, (2015). Gene editing saves little girl dying from leukaemia in world first. Online Available at https//www.newscientist.com/article/dn28454-gene-editin g-saves-life-of-girl-dying-from-leukaemia-in-world-first/ Accessed 31 Aug. 2016.Openstax CNX, (2016). DNA Repair. Online Available at https//cnx.org/contents/emailprotected/DNA-Repair Accessed 20 Aug. 2016.Science Daily, (2015).Potential treatment identified for myotonic muscular dystrophy. Online. Available at https//www.sciencedaily.com/releases/2015/03/150318140652.htm Accessed 29 Aug. 2016.Toole,G. and Toole,S. (2015). A Level AQA Biology. 2nd Edition. Glasgow Bell and Bain Ltd. Pages 36-37, 202-203.University of Rochester Medical Center, (2012). A Promising rate Forward Toward Muscular Dystrophy Treatment. Online Available at https//www.urmc.rochester.edu/news/story/3572/a-promising-step-forward-toward-muscular-dystrophy-treatment.aspx Accessed 29 Aug. 2016.Wellcome Trust Sanger Institute, (2001). Ten facts from the Human Genome Project. Online Available at http//www.sanger.ac.uk/news/view/ten-facts-human-genome-project Accessed 20 Aug. 2016.Your Genome, (2015). Is germline ge ne therapy ethical? Online Available at http//www.yourgenome.org/debates/is-germline-gene-therapy-ethical Accessed 31 Aug. 2016.Your Genome, (2016). What is CRISPR-Cas9? Online Available at http//www.yourgenome.org/facts/what-is-crispr-cas9 Accessed 31 Aug. 2016.AppendicesFigues and diagramFigure two Results of muscle weakness in Myotonic Dystrophy patients in contrast to those who dont have the disease.Figure three The stages of using bacteria to edit DNA sequence.Gantt mapGlossaryDeoxyribonucleic acid (DNA) a molecule that is consist of instructions for an organism needs to develop, live and reproduce.Non-overlapping each base in the sequence is read one.Dominant allele the disease is present even if the individual only has one copy of the allele.Ribonucleic acid (RNA) a messenger carrying single stray instructions from DNA to control protein synthesis.Enzyme-medicated process single enzyme or multiple enzymes synthesis copies of nuclei acid.False positive A result that indicates that a wedded condition is present when it is not.Cell membrane the partially permeable membrane surrounding the cytoplasm of a cell.Stem cells an undifferentiated cell of a multicellular organism which has the ability to differentiate to repair and replace discredited tissues and organs.Tissue - group of similar cells working together to perform a special function.Organ Combination of tissues that are coordinated to perfrm a motley of functions. Eg. Heart, lungs.T- Cells Type of lympocyte matured in the thymus gland that is involved in humoral immunity.Enzyme a protein with a specific active site and 3rd structure. It acts as a biological catalyst to bring about a biochemical reaction.Cas9 a protein that guides the RNA to enter cells without undergoing transcription and translation.DS1Good start. In future, learn to practice academic language. Such as This paper will or The research in this paper will discuss avoid using I, me, we my etc.DS2Good.DS3GoodDS4Excell ent points raised.DS5Good point
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