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Genomics and Rare Diseases


We support and deliver research studies on a range of genetic conditions. The studies we are involved include:

  • rare diseases
  • causes and prevention of birth defects
  • genetic approaches to the treatment and prevention of common diseases that run in families
  • the development of new prenatal technology diagnosis and management in children with congenital abnormalities
  • adults with later onset disorders such as cancer predisposition syndromes

We can run research studies teaching hospitals and across different care settings.

UK Rare Diseases Framework

The UK Rare Diseases Framework was published in January 2021.

The framework sets out a national vision on how the UK will improve the lives of those living with rare diseases. It outlines four high-level priorities for rare diseases in the UK over the next five years:

  • helping patients get a final diagnosis faster
  • increasing awareness of rare diseases among healthcare professionals
  • better coordination of care
  • improving access to specialist care, treatment and drugs.

Each of the four UK nations has developed nation-specific action plans. NIHR is a key partner in delivering the Rare Diseases Action Plan in England. Find out more:

Rare Diseases Action Plan and progress

National Specialty Lead

Professor Eamonn Maher is the Clinical Research Network (CRN) National Specialty Lead for Genetics.

Funding opportunities / funding calls

See the latest funding opportunities for genomics and rare diseases research

Associate Principal Investigator (PI) Scheme

If you’re a healthcare professional, you could be eligible for our Associate PI Scheme

Help with research

Through the Clinical Research Network (CRN), you can get help with:

  • planning and delivering your research to achieve the greatest impact
  • recruiting patients for your study
  • costs for your study, if you are eligible. This could include money for extra staff, facilities or equipment

Find out more about the Services to support study delivery