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Biography
I have been an NHS consultant gastroenterologist at Cambridge University Hospital since 2001. I was appointed as director of the Cambridge Biomedical Research Centre and awarded an honorary chair by the University of Cambridge in 2020. My clinical and research interests are in Crohn’s disease and ulcerative colitis (collectively inflammatory bowel disease or IBD). I am recognised as one of the leading global investigators in IBD pathogenesis and particularly IBD genetics. According to Google Scholar my H index is 80 with >27,000 citations from 34 publications in the last 5 years. Ten of the papers on which I have played a key role have over 1000 citations, including one on which I was first author (1395 citations) and another the senior author (3100 citations).
IBD exacts a huge toll on patients’ lives and NHS budgets. Improved treatment outcomes require better understanding of IBD pathogenic pathways and determinants of severity. My research aims to identify these; and target them for clinical benefit.
My basic training in IBD genetics occurred in Oxford at the Wellcome Trust Centre for Human Genetics where I undertook a 3.5 year MRC research training fellowship supervised by John Bell and Derek Jewell. I moved to Cambridge in 2001 and established the East of England IBD genetics research programme. I founded and have led the UK IBD genetics consortium for 15 years, and was co-PI and management committee member for the Wellcome Trust Case Control Consortium. These collaborations led to seminal early GWAS studies in Crohn's disease (WTCCC, Nature 2007; Parkes et al, Nature Genetics 2007).
With regard to ulcerative colitis we provided the first detailed insights into the molecular genetic overlap between ulcerative colitis and Crohn's disease (Fisher et al, Nature Genetics 2008). With WTCCC we subsequently undertook a full GWAS in UC (Barrett et al, Nature Genetics 2009). GWAS remains a key technology by which we identify new IBD pathogenic pathways (de Lange et al Nature Genetics 2017) although increasingly we are using whole genome or whole exome sequencing in our studies (Luo et al Nature Genetics 2017).
In 2007, with other group leaders from the UK, North America and Europe, I founded the international IBD genetics consortium and chaired this group for its first 3 years. During this period we published 3 reports in Nature Genetics (Barrett et al, 2008; Franke et al, 2010 and Anderson et al, 2011) and laid the groundwork for the Immunochip study in which we genotyped >40,000 patients with IBD and identified 163 independent genome-wide significant loci (Jostins et al, Nature 2012). Additional publications have followed in Nature, Nature Genetics and the Lancet.
Collaborating with Ken Smith I helped in the development of an accurate biomarker of IBD prognosis based on gene expression profiling in CD8+ T cells (Lee et al, JCI 2011). The genetic variants underlying the signature have been functionally interrogated (Lee et al, Cell 2015). This has been developed for a biomarker-stratified trial in early Crohn's disease - the first stratified medicine trial in inflammatory disease - funded by the Wellcome Trust. I am national Chief Investigator for this study. Also playing to the theme of stratified medicine in Crohn’s disease, we have recently identified a number of loci associated with disease course / prognosis as opposed to disease susceptibility (Lee et al, Nature Genetics 2017).
I have collaborated on a number of studies investigating the role of the microbiota in IBD, with investigators in the US and UK – published in Cell (2015) and recently in Immunity (2019) and Gut Microbes (2019). We have recently been awarded a $1.4 million NIH grant to continue work on the virome in IBD.
I am Chief Investigator for the national IBD BioResource, funded by the MRC and NIHR. Since 2016 we have recruited >34,000 patients with IBD who can be recalled by phenotype or genotype for downstream studies (Parkes Gut 2019; Stournaras et al Gut 2021). Recently we have been awarded a £4.5 million UKRI grant to align routinely collected healthcare data to the NIHR IBD Bioresource, and to make the whole available to the research community. Among the many studies the IBD BioResource is supporting is a pharmacogenetics analysis identifying genetic markers of immunogenicity to anti-TNF therapy – likely to have an early clinical impact on IBD management (Sazonovs et al Gastroenterology 2019).
In 2014 I was elected as the first chair of the British Society of Gastroenterology IBD Clinical Research Group to drive translational IBD research UK-wide. During my 3 year chairmanship we increased MRC/WT/NIHR funding of UK IBD studies from £1.2 million in the previous 5 years to £14.8 million across 5 sites. I am still a member of that committee and also of the Research Advisory Group at Crohn’s and Colitis UK.
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Employment (1)
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Professional activities (5)
Funding (14)
G-2002-04255
200448/Z/16/Z
361650
099450/Z/12/Z
084725/Z/08/Z
076113/B/04/A
Works (50 of 172)
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