Genomics of Common and Rare Inherited Diseases 15 credits

The aim of this microcredential is to provide an introduction to the clinical presentation and manifestations of common and rare inherited diseases. The microcredential 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 microcredential 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 microcredential 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 the Omics Techniques and Technologies microcredential, students will further explore the analytical challenges in genomics as applied to rare inherited diseases.

This microcredential 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.

Content

• 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.

Course dates

On campus teaching will take place on 5 days: Monday 3rd - Wednesday 5th February and Thursday 13th - Friday 14th February 2025.

Credits

15 credits

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 genomics@contacts.bham.ac.uk

Why choose a Postgraduate Microcredential short course?

• Microcredentials offer the perfect opportunity to boost your CV without the commitment of a full degree
• Usually taken from existing modules within a Masters, they can be used as standalone credentials with some also counting as academic credits at postgraduate level
• Add a postgraduate level qualification to your CV
• Develop the specialist skills you need for your career goals
• Alumni status with the University of Birmingham
• Learners will have the same access to our student support and campus facilities as our students on full degree programmes.

Please note the deadline for submitting an application:

• Applicants eligible for Home fees are to apply a minimum of 6 weeks before the module start date.
• Applicants eligible for Overseas fees are to apply a minimum of 3 months before the module start date.

Please note that once registered for the microcredential you cannot swap for the non-credit short course version.