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.
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:
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.
9. DO NOT just cut and past text from the internet. This is considered Academic
Dishonesty, and is easily detected. If you do this, you will have to go see the
Dean (not a good thing).
10.No more than 10% of the text in your assignment should be direct quotes. So
DO NOT just cut and paste text, and put quotation marks around it to make
more than 10% of your assignment. You need to write the assignment in your
own words.

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– Print must be double-spaced, with 1 inch margins all around.
– Type size must be no smaller than 12 points.

– 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
– 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.

Pick a disease that is associated with mutations in a single gene!

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