Assignment 1: Genetic Disease and Molecular Diagnosis

Refer to journals and/or web-based references and choose a genetic disease.

(a) Discuss the pathogenesis of this disease and classical methods (if any) available for its diagnosis.

(b) By referring to current understanding of the genetic defects involved in the disease chosen, discuss the DNA-based methods developed for its diagnosis. If several

methods are in use, compare these methods and discuss their applications.

Format: Approximately 4 pages (1500 words) plus references. Use Vancouver style when citing references (ie. numbers)

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