Assignment Objectives: HMB265H1F Fall 2015 Assignment ????apply genetic concepts to a current disease/condition ????develop an appreciation of human genetic diseases/conditions ????summarize and interpret scientific data ????create a family tree/pedigree There are two parts to this assignment: A & B Part A: Refer to the list of sources below and write a 500-word, 1-page essay about the genetics of one of the single-gene diseases/conditions mentioned in the article by Lench, N. et al. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. You are expected to synthesize information from all sources listed below and write in your own words. Chunking text with minimal changes (i.e. copy-and-pasting phrases) is not acceptable; see below on Academic Honesty. Additional instructions for Part A: Essay Format: You must use 12-point Times New Roman font, single-spaced text (when formatted in Microsoft Word), and 2.5 cm (1 inch) margins on all 4 sides. The reference list can be on a separate page and does not count towards the word limit. A word count variation of up to 10% is allowed (meaning the absolute maximum number of words is 550). Your essay should have: ? a title ? author (your name, student number, TA name) ? an introduction paragraph ? body paragraphs (each with a theme with information backing up that theme) ? a conclusion paragraph. There should be a logical progression within paragraphs as well as between paragraphs. Please use your college writing centre for helpful advice. Sources: 1) Lench, N. et al. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. Prenat. Diagn. 33, 555-562 (2013). 2) Twooriginalscientificarticlespublishedonthegeneticsofthesingle-gene disease/condition that you selected from the article. These original scientific papers must be primary articles in which new scientific research is performed and the results are being communicated. (Find by going to PubMed at http://www.ncbi.nlm.nih.gov/pubmed/ and searching using the name of the disease and the search term genetics). *helpful tip: if you are using a computer on campus, you will be able to access full journal articles directly from PubMed (as long as U of T subscribes to that journal). If you are doing research off ?? campus, you can connect to PubMed through the U of T library site https://onesearch.library.utoronto.ca/popular-databases (select the PubMed database). This will allow you the same access you would have on campus. 3) Onescientificreviewarticlepublishedinthelasttwelveyears(fromyear2003+)onthe genetics of one of the diseases/conditions mentioned in the article (find by going to PubMed at http://www.ncbi.nlm.nih.gov/pubmed/ and searching using the name of the disease and the search term genetics). You can focus on any of the following genetic aspects: ? Discovery of the gene involved ? How the disorder is transmitted ? How common specific mutations are in the population ? What the gene codes for and what is the function of the gene product ? What is the function (if any) of the mutant gene/protein ? Animal models that manipulate the gene to study effects/ physiological function of the gene product ? Gene therapy (Note that you should only focus on one or two of these, not the entire list). Start by framing the issue using the article by Lench, N. et al. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. (That might be all you need to cite from the articleunless more relevant information is there). Then give some general information about the disease. (This is where the review article will be useful) Use the information in the primary papers to focus your essay to a given area. This is where you can get specific. The majority of your written assignment will consist of material from these 2 primary papers. There is no need to go into great detail about the methodsbut do mention how the overall experiment was done (e.g. looking at family members affected with the disease, studies with mice, in vitro expression studies, etc). Make sure to discuss specific results and their significance/importance. Conclude with the big picture (i.e. relate the information from the primary papers to your introduction of the disease). References: 1. Use the 4 sources, as described above. (It is OK to use more than these 4 sources, but you will not receive additional marks for doing so). 2. Cite appropriately. Include a reference list at the end that contains the articles that you cite in the text. Use the referencing style of the journal Nature for the in-text citations and for the reference list (see: http://www.nature.com/nature/authors/gta/index.html#a5.4). 3. In scientific writing, quotations (i.e. identical wording enclosed by quotation marks) are rarely used. At a maximum, we would expect one quotation. All other information must be written in your own words. The ideas from your sources must be synthesized (i.e. combined in unique and original ways).
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