Genomics of Common and rare disease (for CPPD)

The number of rare monogenic disorders is estimated to be greater than 7000, but only in approximately half of these are the underlying genes known. Common conditions such as intellectual disability, diabetes and schizophrenia are thought to arise from a complex interplay of genetic and environmental factors but deeper understanding of the genetic and mechanistic basis of these conditions is necessary for clinical translation.

The module offers a comprehensive overview of the traditional and current strategies and techniques used to identify genes responsible for both common multifactorial and rare inherited diseases, focusing mainly on the latter. This module will initially explore the clinical presentation and course of a range of common and rare inherited diseases. The principles and practise of medical genetics, and the management and treatment of probands and their families will be discussed. In addition, the role of genomics in a care pathway will be examined including the patient and family perspective. Building on knowledge gained in MOD2 (Omics techniques and the application to genomic medicine), students will further explore the analytical challenges in genomics as applied to rare inherited diseases.