The aim of this module is to provide an introduction to the clinical presentation and manifestations of common and rare inherited diseases. The module will also consider the patient and family perspective with respect to the role and impact of genomics, and provide an overview of the approaches used to identify the underlying genes involved.
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.
- Landscape of common and rare inherited diseases, including: definition; prevalence; age of onset; number of rare diseases with identified associated genes; and number of common diseases with an associated genetic cause.
- Clinical presentation and course of a range of rare inherited and common diseases.
- Principles and practise of medical genetics; risk stratification and management of patients and their families, including cascade testing and clinical surveillance.
- Approaches and techniques used to identify genes responsible for common and rare inherited diseases (for example, candidate gene, positional mapping, genome wide association studies, exome/whole-genome sequencing, use of population data sets, and network biology).
- Basic statistics to aid interpretation of Genome Wide Associated Studies (GWAS) and analysis of populations.
- The NHS Genomic Medicine Service and National Genomic Research Library, and their data infrastructures.
- Selection of tractable cases with unmet diagnostic need, suitable for whole genome analysis.
- Analytical challenges in genomics as applied to rare inherited diseases including: the potential of electronic health records to enrich patient data; the importance of phenotyping, and use of databases such as ClinVar, and an understanding of the Human Phenotype Ontology; use of large population datasets; and sharing information, for example, Human Variome Project.
- Clinical use of genomic data, including: awareness of standardised nomenclature used when reporting the results; diagnostic yield; multidisciplinary care; data storage; and patient confidentiality.
15 Masters level credits
Module attendance required
Teaching delivered over 5 days.
Professor Tim Barrett (Professor of Paediatrics and Child Health, University of Birmingham and Honorary Consultant Paediatric Endocrinology and Diabetes, Birmingham Children’s Hospital)
Dr Richard Tuxworth (Senior Lecturer, Institute of Cancer and Genomic Sciences)
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