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Department
  • Clinical Biochemistry
    • Institute
  • Wellcome – MRC Institute of Metabolic Science
    • Research Theme Neurons, Circuits and Networks Beyond the Neuron
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    Professor Stephen O'Rahilly FRS FMedSci

    University Position
    Head of Department

    Interests

    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.

    Associated News Items

    Key Publications

    Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty.

    DOI: http://doi.org/10.1210/clinem/dgad373
    Journal: J Clin Endocrinol Metab
    E-pub date: 17 Nov 2023
    Authors: K Duckett, A Williamson, JWR Kincaid, K Rainbow, LJ Corbin, HC Martin, RY Eberhardt, QQ Huang, ME Hurles, W He, R Brauner, A Delaney, L Dunkel, RP Grinspon, JE Hall, JN Hirschhorn, SR Howard, AC Latronico, AAL Jorge, K McElreavey, V Mericq, PM Merino, MR Palmert, L Plummer, RA Rey, RC Rezende, SB Seminara, K Salnikov, I Banerjee, BYH Lam, JRB Perry, NJ Timpson, P Clayton, Y-M Chan, KK Ong, S O'Rahilly

    MC3R links nutritional state to childhood growth and the timing of puberty.

    DOI: http://doi.org/10.1038/s41586-021-04088-9
    Journal: Nature
    E-pub date: 1 Nov 2021
    Authors: BYH Lam, A Williamson, S Finer, FR Day, JA Tadross, A Gonçalves Soares, K Wade, P Sweeney, MN Bedenbaugh, DT Porter, A Melvin, KLJ Ellacott, RN Lippert, S Buller, J Rosmaninho-Salgado, GKC Dowsett, KE Ridley, Z Xu, I Cimino, D Rimmington, K Rainbow, K Duckett, S Holmqvist, A Khan, X Dai, EG Bochukova, Genes & Health Research Team, RC Trembath, HC Martin, AP Coll, DH Rowitch, NJ Wareham, DA van Heel, N Timpson, RB Simerly, KK Ong, RD Cone, C Langenberg, JRB Perry, GS Yeo, S O'Rahilly

    Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.

    DOI: http://doi.org/10.1038/s41591-021-01349-y
    Journal: Nat Med
    E-pub date: 1 Jun 2021
    Authors: KH Wade, BYH Lam, A Melvin, W Pan, LJ Corbin, DA Hughes, K Rainbow, J-H Chen, K Duckett, X Liu, J Mokrosiński, A Mörseburg, S Neaves, A Williamson, C Zhang, IS Farooqi, GSH Yeo, NJ Timpson, S O'Rahilly

    Quantitative mass spectrometry for human melanocortin peptides in vitro and in vivo suggests prominent roles for β-MSH and desacetyl α-MSH in energy homeostasis.

    DOI: http://doi.org/10.1016/j.molmet.2018.08.006
    Journal: Mol Metab
    E-pub date: 1 Nov 2018
    Authors: P Kirwan, RG Kay, B Brouwers, V Herranz-Pérez, M Jura, P Larraufie, J Jerber, J Pembroke, T Bartels, A White, FM Gribble, F Reimann, IS Farooqi, S O'Rahilly, FT Merkle

    Publications

    Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome.

    DOI: http://doi.org/10.1172/JCI97007
    Journal: J Clin Invest
    E-pub date: 1 Mar 2018
    Authors: J Polex-Wolf, BY Lam, R Larder, J Tadross, D Rimmington, F Bosch, VJ Cenzano, E Ayuso, MK Ma, K Rainbow, AP Coll, S O'Rahilly, GS Yeo

    Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity.

    DOI: http://doi.org/10.1016/j.cell.2015.12.025
    Journal: Cell
    E-pub date: 28 Jan 2016
    Authors: K Dalgaard, K Landgraf, S Heyne, A Lempradl, J Longinotto, K Gossens, M Ruf, M Orthofer, R Strogantsev, M Selvaraj, TT-H Lu, E Casas, R Teperino, MA Surani, I Zvetkova, D Rimmington, YCL Tung, B Lam, R Larder, GSH Yeo, S O'Rahilly, T Vavouri, E Whitelaw, JM Penninger, T Jenuwein, C-L Cheung, AC Ferguson-Smith, AP Coll, A Körner, JA Pospisilik

    Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm.

    DOI: http://doi.org/10.1042/BSR20140111
    Journal: Biosci Rep
    E-pub date: 22 Oct 2014
    Authors: P Gulati, E Avezov, M Ma, R Antrobus, P Lehner, S O'Rahilly, GSH Yeo

    Effects of the mu-opioid receptor antagonist GSK1521498 on hedonic and consummatory eating behaviour: a proof of mechanism study in binge-eating obese subjects

    DOI: http://doi.org/10.1038/mp.2014.126
    Journal: Molecular Psychiatry
    E-pub date: 30 Sep 2014
    Authors: H Ziauddeen, SR Chamberlain, PJ Nathan, A Koch, K Maltby, M Bush, WX Tao, A Napolitano, AL Skeggs, AC Brooke, L Cheke, NS Clayton, I Sadaf Farooqi, S O'Rahilly, D Waterworth, K Song, L Hosking, DB Richards, PC Fletcher, ET Bullmore

    Effects of the mu-opioid receptor antagonist GSK1521498 on hedonic and consummatory eating behaviour: a proof of mechanism study in binge-eating obese subjects.

    DOI: http://doi.org/10.1038/mp.2012.154
    Journal: Mol Psychiatry
    E-pub date: 1 Dec 2013
    Authors: H Ziauddeen, SR Chamberlain, PJ Nathan, A Koch, K Maltby, M Bush, WX Tao, A Napolitano, AL Skeggs, AC Brooke, L Cheke, NS Clayton, I Sadaf Farooqi, S O'Rahilly, D Waterworth, K Song, L Hosking, DB Richards, PC Fletcher, ET Bullmore

    Identification of the global transcriptomic response of the hypothalamic arcuate nucleus to fasting and leptin.

    DOI: http://doi.org/10.1111/j.1365-2826.2010.02026.x
    Journal: J Neuroendocrinol
    E-pub date: 31 Aug 2010
    Authors: Z Jovanovic, YCL Tung, BYH Lam, S O'Rahilly, GSH Yeo

    The GPR54 gene as a regulator of puberty.

    DOI: http://doi.org/10.1056/NEJMoa035322
    Journal: N Engl J Med
    E-pub date: 23 Oct 2003
    Authors: SB Seminara, S Messager, EE Chatzidaki, RR Thresher, JS Acierno, JK Shagoury, Y Bo-Abbas, W Kuohung, KM Schwinof, AG Hendrick, D Zahn, J Dixon, UB Kaiser, SA Slaugenhaupt, JF Gusella, S O'Rahilly, MBL Carlton, WF Crowley, SAJR Aparicio, WH Colledge