I am a Staff Scientist in the Hurles Group at the Wellcome Sanger Institute, where I use statistical genetics and large-scale trio sequencing data from families affected by severe developmental disorders to better understand their genetic architecture and identify the genes and variants that contribute to disease.
My research is motivated by a broader interest in germline mutation and the biological mechanisms that generate human genetic variation. During my PhD (also in the Hurles Group!) I focused on de novo mutations, including developing statistical methods for disease gene discovery in severe developmental disorders and investigating the genetic and environmental causes of germline hypermutation.
I then joined the Trynka Group as a postdoctoral researcher, investigating how genetic association and gene expression data can be integrated to identify disease-relevant cell types. I later moved to Genomics England to work on the Generation Study, developing variant prioritisation strategies for newborn genome screening, before returning to the Hurles Group as a Staff Scientist.
My timeline
Staff Scientist, Wellcome Sanger Institute
Genomic Data Scientist, Genomics England
Post-Doctoral Fellow, Wellcome Sanger Institute
PhD, University of Cambridge Wellcome Sanger Institute
MSc Biostatistics, Harvard Chan School of Public Health
Research Assistant, Whitehead Institute MIT
BA Applied Mathematics, Harvard University