
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 Academic Clinical Lecturer in haematology, and continued to develop my research interests in the genomics of benign haematological conditions. I 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.
I completed training in haematology in 2021 and have held clinical academic consultant roles in haematology since then.
Publications
Recent publications
28/03/2025Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits
Blood Vessels, Thrombosis & Hemostasis
Rare disease gene association discovery in the 100,000 Genomes Project
Nature
Association 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
Teaching
I have been involved in teaching science and medical students throughout my career and was awarded FHEA in 2022.
My current teaching leadership responsibilities include co-leadership of Year 4 of the Bristol MB ChB programme, a key year for Bristol medical students as they sit their final examinations in this penultimate year of study. Previously I was co-lead for Unit 3 ("Genomic Medicine") of the BSc in Genomic Medicine, available to intercalating medical, dental and veterinary students.
I teach second year medical students about anaemia during the Anaemia, Blood and Clotting course, and facilitate Case Based Learning for students in Year 2. I teach introductory haematology to MSc students enrolled on the Transfusion and Transplantation Sciences course about inherited platelet disorders. I supervise BSc and MSc dissertation projects for science and intercalating medical students.
I am the co-lead of the Specialised Foundation Programme and the lead for haematology within the Clinical Academic Training school of the Severn Deanery. In addition, I also provide postgraduate haematology teaching and supervision to doctors and other healthcare professionals in training through the NHS component of my position, and develop educational materials in collaboration with Genomics England.