Module leads: Prof Tim Barrett and Dr Richard Tuxworth

Module code: 01 27580

Credits: 15

Attendance: Teaching delivered on a Friday for five consecutive weeks

Module dates: 5 Oct- 2 November

Learning hours: 150 hours – teaching and private study

Three spaces are still available for this module for NHS staff, thanks to Health Education England funding.

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.

The students will then learn about the Genomics England 100,000 Genomes Project and data infrastructure and through practical examples learn how to select cases with unmet diagnostic need that will benefit from exome or whole genome sequencing. Students will further explore the analytical challenges in genomics as applied to rare inherited diseases.

This MSc module will explore the traditional and current approaches used to identify genes responsible for common and rare inherited diseases, focusing on the latter.

By the end of the module students should be able to:

  • Examine the landscape of common and rare inherited diseases
  • Explain the genetic architecture of common and rare inherited diseases
  • Critically evaluate traditional and current approaches used to identify genes for common and rare inherited diseases
  • Synthesise information gained from exome/whole genome analysis with patient information/medical records to determine diagnosis, penetrance or prognosis for a number of examples of common and rare inherited conditions
  • Discuss and evaluate the Genomics England Programme and the Data Infrastructure
  • Identify phenotype, select cases and relevant family information for whole exome or whole genome based approaches for hypothesis free whole exome or whole genome sequencing
  • Discuss and critically evaluate the implications of patient access to their medical records and clinical information for medical genomics, inter-professional practice and multidisciplinary care

Assessment: The module will be assessed via a poster presentation, a 3000-word essay assignment and an exam with short answer questions (essay submission date and exam, typically about five-six weeks after the teaching)