
Dr Sarah Westbury
BA (Hons), BM Bch (Dist), PGCert MedEd, PhD, FRCPath
Expertise
My research interests are the deep phenotyping and genomics of heritable haematological disorders, and the development of laboratory and computer-based tools to predict which genetic variants are involved in disease.
Current positions
Consultant Senior Lecturer in Haematology
Bristol Medical School (THS)
Contact
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Biography
I first became interested in the genomics of rare diseases as an undergraduate medical student at the University of Oxford. I completed my BA dissertation on the genetics of chorea acanthocytosis, a rare neurological and haematological condition, under the supervision of Prof Tony Monaco at the Wellcome Trust Centre for Human Genetics in Oxford.
After completing my medical degree, I stayed in the Oxford region for Foundation medical training. I subsequently moved to Bristol before later starting academic haematology training as a NIHR Academic Clinical Fellow. I was drawn to haematology as a specialty because of its combination of laboratory and clinical medicine, its strong research base and my experiences of training with inspirational haematologists in Oxford and Bristol.
I took time out of training to complete a PhD investigating the genomics of rare haematological disorders under the supervision of Prof Andrew Mumford and Prof Paolo Madeddu (University of Bristol) and Prof Willem Ouwehand (University of Cambridge). I subsequently returned to clinical training as a NIHR Clinical Lecturer in haematology, and I continue to develop my research interests in the genomics of benign haematological conditions. I am a member of the NIHR BioResource and ThromboGenomics consortia, the Genomics England benign haematology GeCIP and the US ClinGen Platelet Disorder expert group. I have also spent 6 months visiting Prof Walter Kahr's group at the University of Toronto, using inherited disorders of platelet number and function to provide insights into platelet biology.
Publications
Recent publications
24/12/2024Association between tumour somatic mutations and venous thromboembolism in the 100,000 Genomes Project cancer cohort
Wellcome Open Research
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA
American Journal of Human Genetics
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
Inherited platelet disorders
British Journal of Haematology
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome
Journal of Thrombosis and Haemostasis
Teaching
I have been involved in teaching science and medical students throughout my career and completed a postgraduate teaching qualification in 2012.
My key teaching responsibility for medical students is as a co-lead for Unit 3 ("Genomic Medicine") of the BSc in Genomic Medicine, available to intercalating medical, dental and veterinary students. My major teaching commitment for undergraduate science students is through providing teaching on the genetics of haematological malignancies to BSc students enrolled on the Developmental Genetics and Embryonal Cancer course, part of the School of Cellular and Molecular Medicine. I also teach second year medical students about anaemia during the Anaemia, Blood and Clotting course, and teach MSc students enrolled on the Transfusion and Transplantation Sciences course about inherited platelet disorders. I have supervised and co-supervised undergraduate dissertations for science and intercalating medical students.
In addition, I also provide postgraduate haematology teaching to doctors and other healthcare professionals in training through the NHS component of my position.