معرفی
Stephen Twigg is an Associate Professor of Developmental Genetics at the University of Oxford, affiliated with the Radcliffe Department of Medicine under the Medical Sciences Division. His research focuses on craniosynostosis (premature fusion of skull sutures), its genetic basis, and implications for brain and craniofacial development.
- Email: stephen.twigg@imm.ox.ac.uk
- Funding: Action Medical Research, MRC National Mouse Genetics Network, and NIH R01 (Co-I) grants
Current research projects include:
- Elucidating cranial suture biogenesis using single-cell transcriptomics and CRISPR/Cas9 models
- Identifying non-coding mutations in craniosynostosis patients by mapping regulatory elements and intersecting with patient sequence data
- Investigating gene dosage effects (e.g., ERF mutations) and signaling pathways (ERK1/2, Hedgehog) in suture development
Recent publications highlight his work on FGF4 variants in thoracic dystrophy, mouse models for congenital anomalies, and non-coding genetic mechanisms. He collaborates with institutions like University of Southern California (via Prof Gage Crump) and MRC Weatherall Institute of Molecular Medicine.
Key grants include:
- Action Medical Research Project Grant (2016–2019): Identified non-coding mutations in craniosynostosis
- MRC National Mouse Genetics Network (Oxford lead): Explores functional genomics in congenital anomalies
- NIH R01 grant (Co-I with Prof Andrew Wilkie): Molecular basis of craniosynostosis
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