This module will initially explore the clinical presentation, diagnosis, management and treatment of a range of common and rare inherited diseases. The principles and practice of medical genetics and genomics, and the management and treatment of patients 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.
This module will explore the traditional and current approaches used to identify genes responsible for common and rare inherited diseases, focusing on the latter. Building on knowledge gained in Module 2 (Omics Techniques and Technologies), students will further explore the analytical challenges in genomics as applied to rare inherited diseases.
This module will also describe the Genomics England 100,000 Genomes Project and data infrastructure and through practical examples highlight which how patients with unmet diagnostic need will benefit from exome or whole genome sequencing.
15 Masters level credits
Module attendance required
Teaching delivered one day each week for 5 consecutive weeks.
11/18/25 Jan, 1/8 Feb 2021
The module will be assessed via a poster presentation, a 3000-word essay assignment and an exam with short answer questions. For those taking the module as a stand-alone option, you need only take the assessment if you require the University credits.
Academics involved in the delivery of this module
Professor Tim Barrett (Professor of Paediatrics, University of Birmingham and Honorary Consultant Paediatric Endocrinology and Diabetes, Birmingham Children’s Hospital)
Other University staff teaching:
NHS staff teaching:
- Prof Elizabeth Hughes
- Dr William Bradlow
- Dr Peter Marks
- Dr Samantha Butler
- Dr Tom Fowler (Deputy Chief Scientist and Director of Public Health at Genomics England)
This module can be taken as a stand-alone assessed or non-assessed course.
You should have a good honours degree in a life sciences subject, although we will consider applicants with alternative qualifications and professional experience within the health service or other relevant background. You should either take Fundamentals in Human Genetics and Genomics and Omics Techniques and Technologies and their Application to Genomic Medicine first, or be able to show you have equivalent knowledge and understanding to enable you to benefit from this module.
Please contact the Programme Administrator for further information at firstname.lastname@example.org