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Health & Social Care Research Across North East & North Cumbria.

Genomics and Rare Diseases

Genomics and Rare Diseases

The UK Rare Diseases Framework set out by the UK government outlines the national vision on how the UK will improve the lives of those living with rare diseases. The four high-level priorities for rare diseases include; faster diagnosis of rare diseases, as well as an increased awareness of rare diseases among healthcare professionals.

The other priorities include establishing a better coordination of care and improving access to specialist care, treatment and drugs to treat rare diseases.

How to get involved

Explore

Visit the national specialty page here

Encourage patients to register for BioResource

Signpost patients to NIHR BioResource, where patients who have registered their DNA may be eligible to participate in research based on their genotype or phenotype.

Be Part of Research

Advertise Be Part of Research to patients who are seeking research opportunities

Meet experienced practitioners

Sign up for Link and Learn - a matchmaking service pairing practitioners who are new to research with experienced researchers.

Contact the Research Support Service

Contact the Research Support Service if you have a new research idea