Assignment Objectives:
◦ apply genetic concepts to a current disease/condition
◦ develop an appreciation of human genetic diseases/conditions
◦ summarize and interpret scientific data
◦ create a family tree/pedigree
You can focus on any of the following genetic aspects:
◦ Discovery of the gene involved, how transmitted,
◦ how common in population,
◦ what gene codes for and what is its function,
◦ what is the function (if any) of the mutant gene,
◦ why does the variant increase risk,
◦ animal models that manipulate the gene to study effects,
◦ physiological function of the gene product
◦ gene therapy
(Note that you should only focus on one or two of these, not the entire list).
You have to use following articles
◦ Lench, N. et al. The clinical implementation of non-invasive prenatal diagnosis for
single-gene disorders: challenges and progress made. Prenat. Diagn. 33, 555-562 (2013).
◦ 1 reveiw article
◦ 2 primary articles
The mjaority of your written assignment will consist of material from these 2 primary papers – (1 body paragraph for each of the primary articles )
There is no need to go into great detail about the methods—but do mention how the overall experiment was done
Assignment includes a 500 word written component and a pedigree.
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