Written AssignmentBackgroundIt is important for students to understand that the early part of the 21stCentury has seen a fundamental transformation of biomedical research. We are nowofficially in the post-genome era whereby the entire DNA sequence of all humanchromosomes is known and where new genomes can be sequenced and otherwise analysedrelatively cheaply. This is a pivotal event in scientific progress because of two criticallessons learnt during the past 50 years. These are:A) All disease is genetic. That is to say, the function, or malfunction of gene productsunderlies all diseases one way or another.B) Genes determine our susceptibility to disease. For example, the biggest killers,complex diseases such as heart disease, cancer, diabetes and asthma are the result of theinteraction between our genes and the environment.With our entire genetic makeup known, it acts as an invaluable resource for the vital nextsteps which are to understand: 1) the behaviour (i.e. function) and misbehaviour of ourgenes and 2) why even minor differences between the sequence of one individual’s genesand another’s can profoundly influence not only the likelihood of contracting a particulardisease, but also of an individual’s response to treatment for that disease.DescriptionThe purpose of this assignment is to illustrate the fundamental importance of the study ofour genes to combating disease. You will choose a geneOn this gene you will write a scientific report in a typical scientific format (e.g. of a journalarticle or thesis),
1) title - informative, concise and incorporate key words2) Abstract - a highly condensedform of your introduction, results (only the most important/relevant) and discussionsections. It should be between 200 and 300 words, contain no references and be a singleparagraph. It should start with a sentence that highlights the problem (e.g. the relevantdisease) and grabs the reader’s attention, and it should end with the key conclusions. Thevery last sentence should highlight the key implication(s) of your findings.3) IntroductionThis should introduce the clinically relevant problem i.e. the human disease(s) with whichthe gene is associated. When introducing the disease problem, explain why it is importantand back up your claims with evidence (i.e. original references; some use of review articlesis OK).4) ResultsFor the purposes of this assignment, your “results” should focus on what is known about thestructure and function of the specific gene being examined and its role in disease byexamining genomic, transcriptomic, proteomic and phenomic aspects (see below). This canbe done in an integrated way or each of these aspects can be considered separately.Genomics (Gene Structure and Chromosomal Location) – what is the number of exonsand approximate mRNA size? On which human chromosome is the gene found and at whichlocation (arm/band/sub-band)?Transcriptomics (Gene Expression of mRNA) – in what tissue(s) is the gene expressed?When does expression of the gene occur e.g. constitutively, in development or only undercertain stimuli? Are there alternative mRNA transcripts of significance and how do theydiffer structurally and functionally?Proteomics (Analysis of the Encoded Protein) – what is the known (or predicted) size ofthe protein encoded by the gene? What is the known (or predicted) cellular localisation (e.g.membrane, secreted, nuclear) and glycosylation status of the protein? Does the protein haveany known functional or predicted phosphorylation sites? Does the protein functionallyinteract with other proteins, DNA or RNA and/or have particular biochemical or molecularactivities?Phenomics (Observable Effects of the Gene on Cells or Organisms) – what is thephenotypic effect of the gene if it has been introduced into an animal (transgenic) or cells?Has the gene been knocked-out or knocked down in an animal (knockout mouse) or in cells?If so, what was the resultant phenotype? Focus on the most significant studies as there maybe numerous published works on this aspect.Role in Disease - What important (disease-relevant) DNA mutations or polymorphismsoccur in this gene? Is abnormal mRNA expression or splicing involved in disease? Howdoes the abnormal protein or protein variant cause disease or predispose to disease? Has theabnormal/variant gene been shown to cause disease in an animal or cellular model?Note: normally, it is best to write the results section first. Figures and tables are encouragedand should be used in a way that helps the reader understand the material being presented.Any figures or tables should be placed as close as possible to where they are referred to inBMS315 Unit Information 20the text and have an explanatory title and legend (figure titles/legends go below the figurewhile table titles go above the table). Try to avoid, where possible, neutral figure titles e.g.“Detection of mutations within gene X can confirm diagnosis of 90% cases of disease Y” ismuch better and more informative than “Mutations in gene X and disease Y diagnosis”.5) DiscussionThe discussion is the most important section as it highlights the major implications of theresults and is the last thing that the reader sees. It should begin with some backgroundinformation i.e. a brief recap of the problem (the disease with which the gene is associated).It should then summarize the overall function (or functions) of the protein encoded by thegene. Very importantly, it should comment on how studies on the gene have impacted/led toour current understanding of the disease process as well as improved the prognosis,diagnosis, classification, treatment and/or prevention of the disease with which it isassociated. The discussion should end with mention of the limitations of our currentknowledge with respect to the particular gene (this will be greater or lesser depending on thegene), and speculation on what the future might hold in terms of better management of thedisease. The discussion should not merely restate the findings from the results section. Itshould also avoid grandiose statements that are meaningless e.g. “Much more research isrequired” (what research?, in what areas?). What it should do is provide a synthesis (acombination of disparate components taken from the scientific literature etc formed into anew connected whole). This requires you to actually mentally digest the available literature(or a portion thereof), rather than simply provide a chronological list of findings on thetopic.Please note: this is the most important section of your assignment as it requires analysisand insight.