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

Genomics and Rare Diseases

Meet the Team

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.

Steve Pratt

Research delivery manager

CRN North East and North Cumbria

Jordi Diaz-Manera

Genomics and rare diseases specialty group lead

Newcastle University

Steve Pratt's research experience

I am the research delivery manager for children and young people's research, which includes schools, reproductive health and childbirth, genetics, mental health and dementias and neurodegenerative disease specialties for CRN NENC. Since joining the NIHR CRN in 2008 I have worked in a number of operational and strategic leadership roles supporting the delivery of health and care research.

Prior to joining the NIHR I worked as a postdoctoral academic researcher at Durham University and The University of Sheffield within the field of biomedical sciences. I am passionate about enabling the development, delivery and implementation of research that impacts positively on health and care outcomes, through partnership working. Tips to get involved in research include contacting your research and development and CRN specialty team and speak to colleagues who are already involved in research about their experiences.

Connect with Steve Pratt

Email Steve

Jordi Diaz-Manera's research experience

I am an adult neurologist specialised in genetic neuromuscular diseases. Currently, I work at the John Walton Muscular Dystrophy Research Centre at Newcastle University and have held this role since 2020. I am a professor in neuromuscular disorders and an honorary consultant clinical geneticist at the Newcastle upon Tyne Hospitals NHS Foundation Trust.

I have a keen interest in translational and basic research in muscle diseases. I have been involved in research for more than 20 years, especially in the implementation of MRI protocols to assess muscle structure in patients with muscular dystrophies, but also doing basic research aiming to understand the molecular pathways involved in the process of muscle degeneration.

My tips for getting involved in research are: have an interest in understanding new potential drugs and treatments to enable better outcomes in patients with genetic diseases, as well as understand processes of your specialist therapy area, in my case, this is muscular degeneration.

Connect with Jordi Diaz-Manera

Email Jordi

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

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Meet experienced practitioners

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Contact the Research Support Service

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