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Cambridge Cardiovascular



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.


Key publications: 

Downes, K., Zhao, X., Gleadall, N. S., McKinney, H., Kempster, C., Batista, J., . . . Ma, P. (2022). G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1. Blood Adv, 6(7), 2319-2330. doi:10.1182/bloodadvances.2021005453

Turro, E., Astle, W. J., Megy, K., Graf, S., Greene, D., Shamardina, O., . . . Ouwehand, W. H. (2020). Whole-genome sequencing of patients with rare diseases in a national health system. Nature, 583(7814), 96-102. doi:10.1038/s41586-020-2434-2

Downes, K., Borry, P., Ericson, K., Gomez, K., Greinacher, A., Lambert, M., . . . Subcommittee on Genomics in Thrombosis, H. (2020). Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH. J Thromb Haemost, 18(10), 2751-2758. doi:10.1111/jth.14993

Downes, K., Megy, K., Duarte, D., Vries, M., Gebhart, J., Hofer, S., . . . Freson, K. (2019). Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood, 134(23), 2082-2091. doi:10.1182/blood.2018891192

Lead Scientist for Rare and Inherited Disease, NHS East Genomic Laboratory Hub, Cambridge University Hospitals
Visiting Scientist - Department of Haematology, University of Cambridge
Kate Downes

Contact Details


Departments and institutes: 
Person keywords: 
Rare disease
Functional genomics
Familial hypercholesterolemia