HMB265H1F Summer 2022 Assignment

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

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/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”.

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 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.

Sources:
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 http://www.ncbi.nlm.nih.gov/pubmed/ 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.

*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.
2) One scientific review article published in the last twelve years (from year 2010+) on the
genetics of one of the diseases/disorders 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/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

(Note that you should only focus on one or two of these, not the entire list).

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).

References:
1. Use the 3 sources, as described above. (It is OK to use more than these 3 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).
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:


unaffected affected unaffected fetus unaffected fetus affected fetus affected fetus
fetus fetus with stillbirth/ terminated with stillbirth/ terminated
miscarriage miscarriage


Due Date: Part A of the assignment must be submitted electronically to Ouriginal via Quercus
(under the “Modules” section on Quercus) by Thursday, June 9th before 6:10 pm (you must
review and confirm academic integrity to see the assignment dropbox).

As well, you must hand in an identical paper copy of Part A, along with Part B, to your TA at the
beginning of your tutorial on June 9th.

Failure to submit either version on the assigned day and time will result in a mark of zero
for the assignment.

*Part B (the pedigree) does not need to be submitted online.

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 June 9th.
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 http://advice.writing.utoronto.ca/using-
sources/how-not-to-plagiarize/ and “Paraphrasing and Summary” by Jerry Plotnick at
http://www.uc.utoronto.ca/paraphrase

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 (https://uoft.me/pdt-faq).].”