Solved by a verified expert: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
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