PURPOSE: To examine the genetic, Biochemical, and Cell biological mechanisms of disease development.
In class we have focused on many of the fundamental principals and techniques of genetics and molecular biology. For this assignment I want you to see how these ideas are applied in studying genetic diseases. In addition, I want you to get insight into the experimental design and procedures that are used for expanding our understanding of genetics and how they are applied to studying and treating human genetic diseases.
The goal will be a final research paper that will be due by the last day of class (April 3, 2016). An outline of what is expected to be presented in the paper is listed below.
Paper Guidelines: Review of a Specific Disease
Components:
A. Clinical Features of the Disease
ï· Age of onset
ï· Male/ Female predominance
ï· Clinical symptoms and pathology ï· Population distribution
B. Genetics/ Transmission
ï· Spontaneous/ Inherited
ï· Inheritance distribution
ï· Identification/ isolation of gene/ loci ï· Mutation of gene
C. Molecular Pathology
ï· Effect of mutation on structure/ function of protein
ï· What/ how pathways are affected
ï· Effect on development/ function of cells, tissue, and organs ï· How gene(s) is related to clinical manifestations
ï· Animal models
Please note that all of the information may not be available or understood for your disease. I expect each of the sections to be addressed in the paper (A., B., & C.), however the subtopics (identified by bullet points) may not be understood. I would like the paper as complete as possible, however the final content will be determined by what is currently known about the disease.
You will accomplish this in three steps. A description of each step and the due date are presented below.
1) Choosing a disease.
Due Date: Sunday March 13, 2016
I want you to identify a human genetic disease and provide a very brief overview of the disease (Section A). I want you state how the disease is inherited (Autosomal dominant, Autosomal recessive,
etc) a brief description of the clinical features and the gene that is mutated (if known). This assignment should be no more than 2 pages and is worth 50 points towards your final grade.
2) Identify an experimental journal article. Due Date: Sunday March 20, 2016
I want you to identify a published research journal article that examines the genetic disease that you have chosen. The paper must have been published within the last two years. The paper must present experimental evidence that is relevant to your disease. I want you to submit the paper to me as well as write a one page summary of what was learned by the research study and how it applies to the understanding of the molecular pathology of the disease (Section C.). You can search for a journal article using the resources of the library. I would also like you to choose one experiment (figure) in the paper and describe what experimental techniques were used for that part of the study. This section should not exceed 1 page. This is worth 50 points towards your grade.
3) Final Paper.
Due date Sunday April 3, 2016.
Your final paper will address all of the sections presented in the outline above. This will be a combination of steps 1) & 2), however more detail will be expected for each of the three sections than is presented in the first two assignments. You will be expected to use at least three (you will likely find more than three) references and have them properly referenced in your paper. I want the paper organized as presented in the outline. The final paper should not exceed 6 pages (not including references). The final paper is worth 200 points towards your final grade.
