Roles and subjects
Dr Sara Hope Browne Research Associate in Medical Sciences
Contact
Academic Background
I obtained my BSc in Applied Mathematics and Biochemistry from the University of Sydney, completing my honours year in Applied Medicine and receiving the University Medal. I further completed my PhD in Medicine at the University of Sydney.
During my PhD I developed computational methods to predict the outcome of splice-altering variants, to improve genetic diagnosis in rare disease. I was awarded a Fulbright Scholarship to spend time as a visiting student researcher in the lab of Assoc Prof Monkol Lek at Yale University, where I worked on several projects including identifying splice-altering genetic diagnoses in families with Congenital Heart Disease (CHD) and building software for use by the 4D Nucleome Consortium.
I then moved to my current postdoctoral position in the Nuffield Department of Medicine as one of the lead analysts on a collaborative project with the Novo Nordisk Research Centre Oxford (NNRCO), identifying small Open Reading Frames (smORFs) associated with cardiometabolic phenotypes in the UK Biobank.
Research Interests
Genomic medicine, mRNA splicing, and bioinformatics methods development.
Hobbies
Outside of my research I enjoy playing piano, having received my Associate in Music, Australia in Piano Performance during my PhD.
Publications
Selected Publications:
- Chen Y., Dawes R., Kim H.C. et al. (2024) De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 632 (8026), 832-840
- Dawes R., Bournazos A.M., Bryen S.J., et al. (2023) SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature Genetics. 55 (2), 324-332
- Dawes R., Joshi H., & Cooper S.T., (2022) Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data. Nature communications. 13 (2), 1655
- Dawes R., Lek M., & Cooper S.T., (2019) Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. NPJ genomic medicine. 4 (1), 8
Links
Subject notes for courses taught at Jesus College:
See also the Medical School’s website and Ruebena’s departmental profile.