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Cambridge Cardiovascular



My research has been concerned with the elucidation of the basic causes of obesity and Type 2 diabetes at a molecular level and the translation of those discoveries into improved diagnosis and therapy for patients. My work has uncovered several previously unrecognised genetic causes of these diseases including some that are amenable to specific treatment.


Key publications: 

Full list of publications can be found in PubMed

Polex-Wolf J, Lam BY, Larder R, Tadross J, Rimmington D, Bosch F, Cenzano VJ, Ayuso E, Ma MK, Rainbow K, Coll AP, O'Rahilly S, Yeo GS. Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome. J Clin Invest. 2018 Jan 29. pii: 97007. doi: 10.1172/JCI97007. PubMed PMID: 29376887.

Larder R, Sim MFM, Gulati P, Antrobus R, Tung YCL, Rimmington D, Ayuso E, Polex-Wolf J, Lam BYH, Dias C, Logan DW, Virtue S, Bosch F, Geo GSH, Saudek V, O’Rahilly S, Coll AP. Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight-regulation. Proc Natl Acad Sci U S A. 2017 Aug 15. pii: 201707310. doi: 10.1073/pnas.1707310114. [Epud ahead of print] PubMed PMID: 28811369.

Dalgaard K, Landgraf K, Heyne S, Lempradl A, Longinotto J, Gossens K, Ruf M, Orthofer M, Strogantsev R, Selvaraj M, Lu TT, Casas E, Teperino R, Surani MA, Zvetkova I, Rimmington D, Tung YC, Lam B, Larder R, Yeo GS, O’Rahilly S, Vavouri T, Whitelaw E, Penninger JM, Jenuwein T, Cheung CL, Ferguson-Smith AC, Coll AP, Körner A, Pospisilik JA (2016), “Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity” Cell 164(3):353-64

Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, De Lucia Rolfe E, Stewart ID, Wheeler E, Willems SM, Adams C, Yaghootkar H; EPIC-InterAct Consortium.; Cambridge FPLD1 Consortium., Forouhi NG, Khaw KT, Johnson AD, Semple RK, Frayling T, Perry JR, Dermitzakis E, McCarthy MI, Barroso I, Wareham NJ, Savage DB, Langenberg C, O’Rahilly S, Scott RA (2016), “Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance” Nature Genetics doi: 10.1038/ng.3714

Lotta LA, Scott RA, Sharp SJ, Burgess S, Luan J, Tillin T, Schmidt AF, Imamura F, Stewart ID, Perry JR, Marney L, Koulman A, Karoly ED, Farouhi NG, Sjögren RJ, Naslund E, Zierath JR, Krook A, Savage DB, Griffin JL, Chaturvedi N, Hingorani AD, Khaw KT, Barroso I, McCarthy MI, O’Rahilly S, Wareham NJ, Langenberg C (2016), “Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis” PLoS Med 13:e1002179

Raffan E, Dennis RJ, O’Donovan CJ, Becker JM, Scott RA, Smith SP, Withers DJ, Wood CJ, Conci E, Clements DN, Summers KM, German AJ, Mellersh CS, Arendt ML, Iyemere VP, Withers E, Söder J, Wernersson S, Andersson G, Lindblad-Toh K, Yeo GS, O’Rahilly S (2016), “A Deletion in the Canine POMC Gene Is Associated with Weight and Appetite in Obesity-Prone Labrador Retriever Dogs” Cell Metabolism 23(5):893-900

van der Klaauw AA, Keogh JM, Henning E, Stephenson C, Kelway S, Trowse VM, Subramanian N, O’Rahilly S, Fletcher PC, Farooqi IS (2016), “Divergent effects of central melanocortin signalling on fat and sucrose preference in humans” Nature Communications 7:13055

Tung YC, Gulati P, Liu CH, Rimmington D, Dennis R, Ma M, Saudek V, O’Rahilly S, Coll AP, Yeo GS (2015), “FTO is necessary for the indication of leptin resistance by high-fat feeding” Molecular Metabolism 4(4):287-98

Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O’Rahilly S, Carel JC, Barroso I, O’Driscoll M, Semple R (2014), “Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance” Journal of Clinical Investigation 124(9):4028-38

Simonds SE, Pryor JT, Ravussin E, Greenway FL, Dileone R, Allen AM, Bassi J, Elmquist JK, Keogh JM, Henning E, Myers MG Jr, Licinio J, Brown RD, Enriori PJ, O’Rahilly S, Sternson SM, Grove KL, Spanswick DC, Farooqi IS, Cowley MA (2014), “Leptin mediates the increase in blood pressure associated with obesity” Cell 159(6):1404-16

Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ; UK10K consortium, O’Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS (2013), “KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation” Cell 155(4):765-77


Professor of Clinical Biochemistry and Medicine
Co-Director, Wellcome-MRC Institute of Metabolic Science
Director, Wellcome-MRC Institute of Metabolic Science-Metabolic Research Laboratories
Director, MRC Metabolic Diseases Unit
Professor Stephen  O'Rahilly