GENETICS 311            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.


1. Genetics

2. Biochemistry and Physiology


  1. 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 challenging.
  2. 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.
  3. 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.
  4. arrange material under the main headings given above. Use sub-headings where appropriate to help organize the topics.
  5. 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.
  6. 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.
  7. 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.