Genomics of Common and Rare Inherited Disease
This module will provide an introduction to the clinical presentation and manifestations of rare inherited and common diseases, and considers the patient and family perspective with respect to the role and impact of genomics. It reviews traditional and current strategies and techniques used to identify genes responsible for both common multifactorial and rare inherited diseases.
From April 2019 we are introducing a new application process.
To apply for HEE funded modules please directly contact your chosen University. The application process flow chart can be found here.
HEE Commissioned places will be allocated on a modular basis only as funding is limited. Speak to your chosen University if you wish to complete more than one module leading to a PGCert, PGDip, or MSc qualification.
The aim of this module is to provide a brief introduction to the clinical presentation and manifestations of rare inherited and common diseases and consider the patient and family perspective with respect to the role and impact of genomics. The module will also offer 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. Building further on the techniques covered in module 2, students will learn how to identify disease phenotypes and how to select cases with unmet diagnostic need that will benefit from either exome or whole genome sequencing.
Outline Of Syllabus
This module will initially explore the clinical presentation and course of a range of common and rare inherited diseases. The module will provide a clear understanding of:
- The principles and practice of medical genetics.
- The management and treatment of probands and their families.
- The role of genomics in a care pathway, including the patient and family perspective.
- The Genomics England 100,000 Genomes Project and data infrastructure.
- How to select cases with unmet diagnostic need that will benefit from exome or whole genome sequencing. The analytical challenges in genomics as applied to rare inherited diseases.
|Type of Course|
CPPD (15 credits)
|Mode of Study|
Imperial College London, Queen Marys University of London / University College London, St Georges, University of London, University of Birmingham, University of Cambridge, University of Manchester
Funding is limited to NHS healthcare professionals working in England from the full range of professional backgrounds and groups (such as medicine, nursing, healthcare scientists and technologists). For those interested in CPPD modules, university entry requirements may include criteria around existing understanding and minimum English language requirements.
Not all universities offer the same CPPD modules. Please check with your preferred university to obtain details of the programme modules, entry criteria and timing before going through the funding application process.
Please download a visual flow diagram outlining the funding application and approval process.
Frequently Asked Questions
I have been awarded funding, started the programme but I am unable to complete the programme. What are my options?
Funding is awarded for CPPD modules only and there is no automatic ability to defer completion of the programme. You should speak to your preferred University provider in the first instance about your situation and also contact the Genomics Education Programme team regarding funding.
How much study time is required to undertake this programme?
Study time will vary across the delivery partners. You are advised to visit your preferred University website site for more information or to contact the relevant course lead. Most modules generally involve approximately 5 days of face to face teaching, followed by between 2-4 weeks of independent study and assessment preparation.
A distance learning option is provided at Queen Mary University of London.
Can I build up my CPPD modules to a full Master’s, PGDip or PGCert qualification?
The process and ability to do this will be dependent on your preferred University and you should contact them to discuss available options.
I am eligible but have been refused a commissioned place – why?
This may be due to the following potential reasons:
- The University you have applied for has used up all its commissioned allocations
- The total number of available national commissions have been fully allocated
- We are now applying controls to the commissioned places based on healthcare profession roles to provide some equitable access across professions on a national scale
I am not eligible for a HEE funded commissioned place – can I self-fund?
This should be discussed with your preferred University
Do you have to have the university place confirmed before you submit an application for funding?
No – as long as the programme start date for your preferred University falls within the specified academic year for the funding application period.
I work for an organisation that provides services to the NHS – am I eligible to apply?
Yes – please provide details in the additional information section of the funding application form.