10 Jun Clinical problem with a genetic component – Insulin Dependent
Question
Clinical background to sickle cell anemia
We Select a clinical problem with a genetic component (i.e. Insulin Dependent Diabetes Mellitus Type I and HLA-DQ) in our area of interest. We can pick an existing paradigm or be creative and speculative. Just pick a gene or loci that has clinical impact for either diagnostic or prognostic reasons. infectious diseases and most molecular targets are acceptable.Here are web sites that might help:
http://www.ncbi.nlm.nih.gov/ or http://gdbwww.gdb.org/gdb/
we need to prepare a report on this focal problem that includes the following:
1) Clinical background. The clinical impact in terms of disease processes, current conventional laboratory methodologies used and the need for genetic testing (i.e. what is the appropriate use of the test in the clinical setting). Two to three paragraphs should be sufficient.
2) Genetic code. A print out of the nucleic acid sequence including polymorphic sites. Whatever it takes. It is assumed that if the region of interest is only 300bp you don’t provide 64000bp, but if it takes 3400bp to support your test, go for it. Annotate with where primers, enzyme cutting sites, probes, etc. are located on the sequence.
3) Generate two testing protocols. Include all reagents, the concentrations they are used at and their source. Real reagents here, no imaginary enzymes. Include controls and a diagram of expected results, be inclusive of all possible phenotypes stated in 2. Two pages maximum. One of the protocols can be a published, existing method. Alter it to make the second one.
4) Design two circulars/flyers focused on the gene, disease or organism you have selected.
a)The first flyer is to be designed as an announcement and educational tool for your new molecular assay. These should be focused on the needs of the clinical staff (read physician). Algorithms showing appropriate clinical utility would be helpful as well as discussion of the clinical relevance of the test. Convince the clinical world they should order your molecular test
over previous testing modalities or demonstrate how it adds that supportive piece to clinical picture. One 8.5″ x 11″ sheet of paper used any way you want, it can be a memo, a tri-fold brochure, printed on one side or both. This is to be used as a reference educational tool.
(b)The second flyer is for the individual who is being tested. This is to inform them of what you are testing, why your testing it and what the interpretation means. Remember, these are lay people you are educating and many fear and distrust science. This is only a 4″ x 6″ index card size.
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