General instructions: ?             Disease explored: ATAXIA-TELANGIECTASIA ?             Two pages, single spaced

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General instructions:

?             Disease explored: ATAXIA-TELANGIECTASIA

?             Two pages, single spaced.

?             I will be compiling this into a presentation so there is no need for essay like structure (no introduction, no conclusion, just subheading).

?             No need to explain the condition, symptoms, pathology (this is strictly focused on genetics)

?             A separate paper is required for each point, not a lot of writing is expected as long as the correct papers are found.

?             Emphasis on part A, it is worth 80% of the mark (need to summarise the experiment, results, conclusions for 1,2, and 3)

?             For parts B and C not much detail is required as long as the appropriate journal articles are identified.

?             Vancouver referencing please.

 

 

A.            CURRENT KNOWLEDGE (primary journal articles that established knowledge not necessarily new but have to be ones that established this knowledge and papers must have experimental evidence): need to summarise the experiment, results, conclusions for each

1.            Discuss a paper that established our understanding of the gene (how was it identified, how was it mapped, understanding its function)

2.            Discuss a paper that established the mechanism of the mutation (what kind of mutation, how does it affect gene function and product)

3.            Discuss a paper that established the cellular pathways involved in this gene

 

B.            Other things to include (a sentence or two) plus the link to the primary journal article is sufficient:

•             Frequency in population (what is the frequency of disease in a population, are there any interesting patterns, common in a certain population?)

•             Transmission (dominant vs recessive, autosomal vs sex-linked, fully penetrant?)

•             How condition is diagnosed (not clinically but in a genetics lab)

 

C.            Section below does not have to be more than 300 words combined (less important than part above):

•             Genetic therapies if there are any (and implications from a primary journal article)

•             Interesting research directions (and implications from a primary journal articles)