In this assignment, you are writing a brief summary of a genetic disease, to be used bygenetic counsellors, physicians, and affected families, as a reference for understanding thedisease.Follow these instructions carefully.1. Go to the National Center for Biotechnology Information (NCBI) website.http://www.ncbi.nlm.nih.gov2. Click on Bookshelf in the right-hand vertical toolbar.3. Search for the Book called: Genes and Disease. Click on this link.4. Or, go directly to: http://www.ncbi.nlm.nih.gov/books/NBK221835. Pick a category of disease from the Contents: Cancer, Immune system, Metabolism,Muscle and bone, Nervous system, Signals, or Transporters, etc, and click on it. Tryto pick a disease that you find interesting. This is just the starting point. You willneed to research the disease you pick using other sources.6. Pick a disease that is associated with mutations in a SINGLE gene to research.7. Pick something that is interesting to you. Do not pick a disease that has many genesassociated with it. Polygenic diseases like heart disease, are very complicated….8. Write a report about the gene and the disease associated with mutations in the gene.9. DO NOT just cut and past text from the internet. This is considered AcademicDishonesty, and is easily detected. If you do this, you will have to go see theDean (not a good thing).10.No more than 10% of the text in your assignment should be direct quotes. SoDO NOT just cut and past text, and put quotation marks around it to makemore than 10% of your assignment. You need to write the assignment in yourown words.Format• Your report should be a minimum of three (3) pages and a maximum of five(5)single-sided pages, not including references or a title page.• Use the APA style guide to format your references• Print must be double-spaced, with 1 inch margins all around.• Type size must be no smaller than 12 points.• Submit as an Adobe .pdf or Microsoft Word (.doc or .docx file)Make sure to look at the Rubric, and check that you have met allthe requirements.At a minimum, your report should include, the followinginformation:Here is a check list. But also look at the Rubric. Is the choice of disease appropriate (disease is due to mutation in asingle gene).Description of the disease and its clinical features.Inheritance of the disease. Is it dominant, recessive, sex-linked,autosomal, etc.Gene locus. Which chromosome is the gene on and where on thechromosome?Known mutations. How many known mutations?How do the mutations affect the gene’s function?References [including URLs if you use websites]. Did you follow theAPA Style Guide?Readability, spelling, grammar, etc.Hints:• The Online Mendelian Inheritance in Man (OMIM) database is a good source ofinformation about genetic diseases. http://omim.orgTry searching for information about the disease by using Google Scholarhttp://scholar.google.caSearch using the name of the disease as a keyword.Pick a disease that is associated with mutations in a single gene.• Use the Rubric to help you structure your assignment.**Here is the rubric for 4 points (best) :1) Provides a clear and thorough introduction and background significant to the disease.2) Clearly states a genetic disease that is an appropriate choice (single gene disorder)3) Provides a clear and thorough explanation of the genetic basis of the disease.4) States chromosome gene is on, and clearly summarizes known mutations and inheritance.5) Uses excellent style and grammar.And thank you soooo much for your help I appreciate it 🙂
