Dr Kate Downes
- Lead Scientist for Rare and Inherited Disease, NHS East Genomic Laboratory Hub, Cambridge University Hospitals
- Visiting Scientist - Department of Haematology, University of Cambridge
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About
Dr Kate Downes is a Clinical Scientist working within the NHS, specialising in rare and complex disease genetics. She is leading the delivery of the rare disease genomic testing for the Genomic Medicine Service at the East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals.
Her clinical interests align with her extensive research background in cardiovascular disease with the establishment of a Familial Hypercholesterolemia (FH) genetic testing service for the East of England and East Midlands and her involvement in regional and national FH translational research programs. In addition, Kate continues to work with colleagues across the rare disease non-malignant haematology community and colleagues generating quantitative multi-parameter platelet function data to better understand the genetics of platelet function.
Her aims look to the application of pharmacogenomics and polygenic risk scores for familial hypercholesterolemia and cardiovascular disease, to better stratify patients for prophylactic therapies and to personalise treatments in the NHS.
Collaborators
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Dr Ernest Turro
- Senior Research Associate
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Dr Mattia Frontini
- BHF Senior Basic Science Research Fellow
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Professor Michael Inouye
- Professor of Systems Genomics & Population Health at University of Cambridge
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Dr William Astle
- Senior Lecturer in Biostatistics
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Professor Willem Ouwehand
- Emeritus Professor of Experimental Haematology, Director of Research
