Research Paper: Human Genetic Disease
50 points, DUE Tuesday April 1 (no fooling)
This semester, you will prepare a research report on the
human genetic disease of your choosing (except sickle cell anemia). The goal
of the paper is to examine a given genetic defect from several angles, and
develop a coherent picture of the defect and its consequences. Areas to be
covered, and possible questions to be addressed, are given below.
- describe the nature of the genetic defect. Is there a characteristic
phenotype? What type of alteration is responsible for the defect? What is
the affected gene? Were is its chromosomal location? If the disorder is the
result of an aneuploid defect or similar cytological genetic change (inversion,
duplication), which chromosome is involved?
- what is the incidence of the defect in the population? Are carriers
- is it possible to determine if parents are carriers, or if the fetus
2. Biochemistry and Physiology
- if the mutation alters a protein product, what is the normal function
of the protein? How is its function changed? If the mutation results in a
cytological genetic change, is there a characteristic set of symptoms associated
with the disorder??
- what type of physiological changes occur as a result of the genetic
change? Are there degrees of severity?
- Feb. 4 - topic choice approved by Dr. Dellis
- Feb. 20 - hand in a rough outline of report
- Apr. 1 - final reports are DUE in class
- before picking a topic, do some preliminary research and make sure
that there is enough information available on the disorder of your choice.
I urge you to not pick something rare or exotic. You will have great
difficulty finding sufficient information. Conversely, something with a complex
or poorly-understood genetic component (e.g. heart disease) may also be very
- the report should be written at a level that is understandable to
beginning graduate or medical students. Thus you can assume a good general
science and basic genetics background. For example, you do not have to define
phenotype, just explain clearly the phenotype of your chosen disorder.
- reports should be 1 1/2 or 2 spaces and at least 12 point (my bad
eyesight). I estimate 7 - 10 pages of text. Anything less than 5 or more
than 15 is not acceptable.
- arrange material under the main headings given above. Use sub-headings
where appropriate to help organize the topics.
- use primary literature, such as journal articles, texts, or reference
books. The MUSC library will have a greater depth of material than our library.
You can use the facilities and make copies at MUSC but CofC folks cannot check
out books or journals.
- any figures, charts, or graphs that you would like to include can
be embedded in the text or attached at the end. Reference the primary source.
The figures, charts, or graphs should be properly labeled.
- all written scientific work must be well referenced, and this is no
exception. Cite references in the text, and include a "References" section
at the end. Use the format given in the journal Genetics, which is
available in the CofC library.