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Discuss a typical path from patient presentation to identification of cellular fault for any Mendelian disease dealt with.

A number of different epigenetic mechanisms can inactivate one of the X chromosomes in female mammals. Describe what these are (30%), how X-inactivation is initiated (30%), and what the consequences of this type special form of chromosome regulation are for predicting disease risk (30%)

Cancer is a condition that becomes more and more common as people age. There are exceptions: some types of cancers are common in childhood or young adulthood. What can explain these two observations? (50% of mark).
Including examples, detail the main types of gene for which an defective or altered functionality can contribute to the development of cancer (50% of mark)

Discuss a typical path from patient presentation to identification of cellular fault for any Mendelian disease dealt with in the module or from outside reading

This year the Nobel committee awarded the Chemistry prize to Doudna and Charpentier for their work on gene editing. Describe the system they discovered and pioneered (50%), and why is it an improvement on older techniques (50%)

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