Contact information
heather.vedovatodossantos@jesus.ox.ac.uk
Clinical Genetics Group (369), MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS
Colleges
ADDITIONAL INTERESTS
Outside my research, I am also Captain of the Oxford Star Trek Society and Emeritus Speaker of the Oxford Speculative Fiction Group.
J. Heather Vedovato dos Santos
MD (Universidade Federal de Mato Grosso do Sul)
DPhil Student
- Clarendon Fund Scholar
- Jesus College Graduate Scholar
- Early Career Researcher in the UK’s National Mouse Genetics Network
- Funded by the Clarendon Fund Scholarship in partnership with the VTCT Foundation and Radcliffe Department of Medicine (RDM) Studentship
RESEARCH INTERESTS
My main research and clinical interest lies in the field of rare genetic disorders. During my DPhil, supervised by Dr. Stephen Twigg, Prof. Andrew Wilkie and Prof. Anne Goriely, my research investigates the genetic and epigenetic mechanisms underlying craniosynostosis — the premature fusion of sutures between the skull bones. I work across several complementary projects aimed at uncovering new disease genes and elucidating pathogenic mechanisms through bioinformatic and experimental model approaches.
My projects include:
- Interrogating next-generation sequencing data from the UK’s Genomics England 100,000 Genomes Project and the NHS Genomic Testing Programme to discover new variants underlying craniosynostosis;
- Studying epigenetic mechanisms that may lead to TWIST1 loss-of-function in the context of craniosynostosis;
- Using mouse models to assess the pathogenicity of a candidate PTCH1 variant;
- Collaborating with local and international partners to delineate the phenotype of new craniosynostosis syndromes (such as BCL11B-related disease.
I am also an early-career researcher in the congenital malformations cluster of the UK’s National Mouse Genetics Network. Beyond my core research, I am deeply interested in the ethical and societal dimensions of genomic medicine.
I welcome any enquiries about my work.
MY BACKGROUND
Before beginning my DPhil, I trained as a medical doctor at the Universidade Federal de Mato Grosso do Sul (Brazil) and undertook an international placements at Newcastle University (UK) through the Science Without Borders scholarship, where I studied SACS gene mutations associated with hereditary ataxia under the supervision of Dr. Rita Horvath. I also contributed to the HUDSEN atlas, under the supervision of Dr. Susan Lindsay. Following that, I completed a residency in Medical Genetics at Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (Brazil), and during that time I worked on a long-term clinical follow-up of a cohort of patients with Sotos Syndrome.