Assignment #2
Genetic Disease Briefing
In this assignment, you are writing a brief summary of a genetic disease, to be used by
genetic counsellors, physicians, and affected families, as a reference for understanding the
disease.
Follow these instructions carefully.
1. Go to the National Center for Biotechnology Information (NCBI) website.
http://www.ncbi.nlm.nih.gov
2. 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/NBK22183
5. 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. Try
to pick a disease that you find interesting. This is just the starting point. You will
need 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 genes
associated 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.
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 (see the APA Style Guide on the
BIOL 1010 cuLearn page)
• 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), or an .RTF (Rich Text
Format) document through the cuLearn Assignment page.
Make sure to look at the Rubric, and check that you have met all
the requirements.
BIOL 1010 – Assignment #2
Page 2 of 2
At a minimum, your report should include, the following
information:
Here is a check list. But also look at the Rubric. ?
Is the choice of disease appropriate (disease is due to mutation in a
single 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 the
chromosome?
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 the
APA Style Guide?
Readability, spelling, grammar, etc.
Hints:
• The Online Mendelian Inheritance in Man (OMIM) database is a good source of
information about genetic diseases. http://omim.org
Try searching for information about the disease by using Google Scholar
http://scholar.google.ca
Search 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.
• Also, take a look at A Rough Guide to Assignment Marking on the BIOL 1010 cuLearn
page.
Notes: Don’t email me to ask if your disease is a good choice. The choice of disease is
part of the assignment.
