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At a Glance

Up to 6 weeks
Accredited
Part Time
CPPD (15 credits)
Blended learning

Genomics of Common and Rare Inherited Disease

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This lecture-based course provides an introduction to the clinical presentations and manifestations of common and rare inherited diseases. It also considers the perspective of patients and their families on the role and impact of genomic medicine, and offers an overview of approaches used to identify genes responsible for common and rare inherited diseases. 

This module forms part of the HEE Genomics Education Programme’s Master’s in Genomic Medicine framework.

Description

Here, you will further explore the analytical challenges in genomics as applied to rare inherited diseases along with the principles and practice of medical genetics and genomics. You will learn about approaches in management and treatment of patients and their families, as well as examining the role of genomics in a care pathway, while taking into account patient and family perspectives. The module provides practical examples that highlight how patients with unmet diagnostic need can benefit from whole exome or whole genome sequencing.  

Learn from leading experts in genomics about: 

  • The landscape of common and rare inherited diseases, including definition; prevalence; age of onset; number of rare diseases with identified associated genes; and the number of common diseases with an associated genetic basis.
  • Clinical presentation of a range of rare inherited and common diseases. 
  • Principles and practice in medical genetics, such as 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. 
  • 100,000 Genomes Project and data infrastructure. 
  • Tractable cases with unmet diagnostic need suitable for whole genome analysis. 
  • Analytical challenges in genomics as applied to rare inherited diseases. 
  • Clinical use of genomic data. 

Learning outcomes

By the end of this module you will be able to: 

  • Examine a range of common and rare inherited diseases. 
  • Explain the genetic basis of common and rare inherited diseases. 
  • Critically evaluate traditional and current approaches used to identify new genes for common and rare inherited diseases. 
  • Synthesise information gained from whole exome or whole genome analysis with patient information or medical records to determine diagnosis, penetrance or prognosis for a number of examples of common and rare inherited diseases using the available evidence base. 
  • Evaluate the use of whole genome sequencing in the clinical management of patients in the NHS, including identifying cases suitable for whole genome sequencing. 
  • Critically evaluate the implications of the clinical use of genomic data in patient care. 
  • Correlate genetic markers to phenotype and interpret output of association studies both for dichotomous and quantitative traits. 

Funding rules

The Genomics Education Programme offers funding on a modular basis, initially covering 1-4 modules, with the potential for additional funding for the full Master’s degree upon demonstrating satisfactory progress. The maximum amount of funding available to each student is the equivalent of 12 modules (180 credits), to cover the full Master’s degree.

Funding covers course fees only and is limited to NHS healthcare professionals working in England on a permanent contract from the full range of professional backgrounds and groups (such as medicine, nursing, healthcare scientists and technologists). Please note funding can only be allocated to those who are post registration professionals.

University entry requirements may include criteria around existing understanding and minimum English language requirements.

The Genomics Education Programme provides limited funding to the Universities listed below. Please check with your preferred university to obtain details of the programme modules and entry criteria.

More information about the application process for CPPD module(s)/PGCert or PGDip/Master’s applications is available on this webpage.

Timetable
  Start date  
Imperial College London TBC
Queen Mary University of London / University College London TBC
St George’s, University of London / King’s College London 25th September 2024
University of Birmingham TBC
University of Cambridge 13th May 2024 and 12th May 2025
University of Exeter TBC
University of Manchester TBC

Please check your preferred university’s website for more detailed information about start dates, length and mode of study.

FAQs

Are applications for funding still open during the Covid-19 pandemic?

Yes. Many of our partner universities are running modules online and funding is available. Please contact your chosen university to discuss your options. You must meet the Health Education England Genomics Education Programme eligibility criteria to receive funding for modules.

I have previously applied and received funding for two modules, but would like to complete two more. Is it possible to transfer my studies to another university?

Yes.  You will need to speak to your chosen university re your requirements. You must also meet the HEE GEP eligibility criteria for funding.

I have previously applied and received funding for two modules, but would like to complete two more. Is it possible to obtain funding?

Yes.  You will need to speak to your chosen university re your requirements. You must also meet the HEE GEP eligibility criteria for funding

I have been awarded funding and started the programme, but I am unable to complete. What are my options?

Funding is awarded for the period specified in the application form and there is no automatic ability to defer completion of the programme. You should speak to your university in the first instance about your situation and also contact the Genomics Education Programme (GEP) team regarding funding.

You may choose to reduce the workload of your programme by switching from, for example, a full Master’s degree to a diploma or certificate. Again, you would need to contact your course provider and the GEP.

How much study time is required to undertake this programme?

Study time will vary across the course providers. You are advised to visit your preferred university’s website for more information or to contact the relevant course lead. Most modules involve around 5 days of face-to-face teaching, followed by 2-4 weeks of independent study and assessment preparation. However, distance learning options are available for most universities.

 

Can I build up my CPPD modules to a full Master’s, PGDip or PGCert qualification?

Funding is allocated on an individual module basis only. Candidates who meet the HEE Genomics Education Programme eligibility criteria for funding can apply for up to four funded modules in the first instance. If you wish to progress to a full Master’s or PGDip, you should discuss options with your chosen university.

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 to 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 help ensure equitable access across professions on a national scale.

I am not eligible for a HEE-funded place – can I self-fund?

This should be discussed with your preferred university.

I work for an organisation that provides services to the NHS – am I eligible to apply?

Yes – please provide details of your organisation and its services for the NHS when you apply to your preferred university.

Make an enquiry

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University Providers

Funded

The logos below indicate the university providers that are able to accept HEE funded applications for this course. Follow the links provided to begin your university application process.

Imperial College LondonQueen Marys University of London / University College LondonSt Georges, University of LondonUniversity of BirminghamUniversity of CambridgeUniversity of ExeterUniversity of Manchester

Self Funded

The logos below indicate the university providers that may be able to accept self-funded applications for this course. Follow the links provided to begin your university application process.

The University of SheffieldUniversity of Southampton

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