Long Lab

Main focus of current work

My group investigates how combinatorial enhancer function and 3D genome architecture contribute to gene regulation, leveraging our in depth knowledge from the SOX9 regulatory locus. Our work will have important implications for understanding how genetic alterations impact normal-range human facial development and can contribute to disease.

Biography

Starting in school I took an active interest in research, and spent a memorable summer supported by a Nuffield Science Bursary to investigate the impact of invasive crayfish species on native populations. I undertook my undergraduate studies at the University of Cambridge in the Natural Sciences, taking further opportunities to conduct research with Professor Leonard Zon at Harvard Stem Cell Institute and Professor Akira Nakamura at the RIKEN Institute in Japan. Based on my interests in development and nuclear processes, I embarked upon my doctoral work at the University of Oxford, Department of Biochemistry as a student in the Wellcome Trust Graduate Programme in Chromosome and Developmental Biology. During my DPhil, I worked with Professors Rob Klose and Roger Patient to uncover conservation of non-methylated islands across vertebrate species and interrogated DNA sequence features that contribute to DNA methylation status.

For my postdoc, I was awarded a Sir Henry Wellcome post-doctoral research fellowship and worked with Professor Joanna Wysocka at Stanford University in collaboration with Professors Doug Higgs and Jim Hughes at the University of Oxford. In my post-doctoral work, I utilised human embryonic stem cell and murine models to functionally characterise gene regulatory regions, called enhancers, that are perturbed in patients with an isolated craniofacial disorder called Pierre Robin sequence (PRS). In this work we provided molecular insights into disease mechanisms, characterised extreme long-range disease-associated enhancers for the SOX9 gene and highlighted how subtle alteration of gene expression can drive morphological change.

I am now a Programme Leader Track (PLT) Group Leader at the MRC Human Genetics Unit.