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Genetics of Single Gene Diseases and Disorders - An Essay

Assignment Objectives

Assignment Objectives: 
apply genetic concepts to a current disease/disorder 
develop an appreciation of human genetic diseases/disorders 
summarize and interpret scientific data 
create a family tree/pedigree 
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/disorders mentioned in the article by Lalani, S.R. “Current Genetic Testing Tools in Neonatal Medicine.”  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”.  
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 that 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.  
1) Two original scientific articles published on the genetics of one of the single-gene diseases/disorders mentioned in 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 and searching using the name of the disease and the search term “genetics”).   

Make sure that the chosen primary articles further the body of knowledge about the underlying genetic mechanisms of your chosen disease/disorder, and as such, an in vivo and/or in vitro functional analysis of the gene(s)/protein(s)/mutation(s), etc. should be included in the articles.  Thus, primary articles that focus, for example, on screening and diagnostic techniques (e.g. non-invasive prenatal diagnosis, newborn screening, etc.), clinical trials, case and retrospective studies with an emphasis on phenotypic 
descriptions, etc. are not appropriate articles, and if such articles are chosen, then marks will be deducted. 
 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 (select the PubMed database).  This will allow you the same access you would have on campus. 
2) One scientific review article published in the last twelve years (from year 2009+) on the genetics of one of the diseases/disorders mentioned in the article (find by going to pubmed at and searching using the name of the 
disease/disorder and the search term “genetics”). 
You can focus on any of the following genetic aspects (this is not an exhaustive list):  
Discovery of the gene involved 
How the disease/disorder is transmitted 
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 
Start by providing some general information about the disease/disorder (this is where the review article will be useful). Then 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 methods—but do mention how the overall experiment was done (e.g. looking at family members affected with the disease/disorder, 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/disorder).

Essay Format

Part B:  
Create a possible family tree for the disease/disorder you have chosen to write about in Part A The pedigree can be created by computer or by hand (if by hand must be drawn and labelled neatly).  The family tree should contain four generations: include at least 12 children in one of the generations, and at least 2 affected individuals in the pedigree.The pedigree should be realistic and believable. Include a figure title and a figure legend/caption that contains a description of the figure in 2-3 sentences, and a list and description of the pedigree symbols.  Use the pedigree symbols provided in the lecture notes and textbook.  You can also use the symbols provided below: 
Failure to submit either version on the assigned day and time will result in a mark of zero for the assignment. This assignment is worth 10% of your final course grade. Not following instructions will result in an automatic mark deduction. Check your assignment with Ouriginal yourself before the due date! To take advantage of this option—submit your assignment to Ouriginal via Quercus before the due date. You can then make changes and submit the revised version by the deadline on November 15th.  In order to guarantee that you can view your results, you should submit at least 2 days in advance. Remember that even one sentence directly copied from a source (if not in quotation marks) is an academic offense. See Academic Honesty below. 
Academic Honesty:  
The assignment is to be done on an individual basis, not in collaboration with others. Make sure you keep your own work in a secure location and do not share with others. In addition to directly copying from published literature and web sites, copying from others or from your own previous assignments is considered plagiarism. This type of academic misconduct is representing “as 
one’s own any idea or expression of an idea or work of another in any academic examination or term test or in connection with any other form of academic work”, and is a serious academic offense.  
Useful guides to help you to appropriately use sources include: “How not to Plagiarize” by Dr. Margaret Procter at  and “Paraphrasing and Summary” by Jerry Plotnick at To deter plagiarism in written assignments, we are using the service Ouriginal. Please see 
Quercus for information on how to submit. 
"Normally, students will be required to submit their course [assignments] to the University’s plagiarism detection tool for a review of textual similarity and detection of possible plagiarism. In doing so, students will allow their essays to be included as source documents in the tool’s reference database, where they will be used solely for the purpose of detecting plagiarism. The terms that apply to the University’s use of this tool are described on the Centre for Teaching Support & Innovation web site (].

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