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Institute of Metabolic Science

Metabolic Research Laboratories
 

Professor Sadaf Farooqi

Research Vision 

Our goal is to develop new treatments for people living with severe obesity by delivering a step-change in our understanding of the control of human energy balance. 

Severe Childhood Obesity 

We have shown that mutations disrupting the hormone leptin and its downstream neural targets cause hyperphagia and severe childhood obesity. With the help of many international collaborators, we have recruited over 7000 people with severe childhood onset obesity to the Genetics of Obesity Study (GOOS). We identify networks of genes and the molecular mechanisms they perturb and undertake physiological studies to determine how these molecules affect eating behaviour and energy expenditure. In this work, we benefit hugely from the Translational Research Facility (TRF).

Thinness 

We are also interested in understanding how and why some people remain thin in an obesogenic environment. Thinness (BMI<18kg/m2) is as heritable as severe obesity. We have recruited a UK cohort of 4000 thin people (STILTS cohort) in whom we are undertaking genetic and physiological studies. 

Translational Research 

We have developed new diagnostics for a range of obesity syndromes and an NHS Obesity Gene Panel is now available for use by Physicians in the UK. We treat patients with congenital leptin deficiency from around the world. We are running clinical trials administering Setmelanotide and other oral melanocortin 4 receptor agonists in patients with genetic obesity syndromes and those with acquired hypothalamic obesity due to tumours. We have multiple partnerships with biotechnology and pharmaceutical companies in target discovery, validation and clinical trials. 

Secretary

Ms Jacqui Brocker  - jb682 at medschl.cam.ac.uk

Group Members 

Dr Rebecca Bounds, Senior Research Co-ordinator  - rb620 at medschl.cam.ac.uk  

Dr Julia Calvo Latorre, Clinical Research Associate - jc2294 at medschl.cam.ac.uk 

Miss Katie Cox, Research Assistant - kjc53 at cam.ac.uk 

Mrs Elana Henning, Principal Research Nurse  - eh330 at cam.ac.uk  

Dr Isabel Huang-Doran, Wellcome Clinical Career Development Fellow  - ih240 at medschl.cam.ac.uk  

Dr Katherine Lawler, Senior Research Associate - kl229 at medschl.cam.ac.uk  

Dr Robert Legg, Clinical Fellow in Genetics - rgl28 at medschl.cam.ac.uk  

Dr Kevin Manuel Mendez Acevedo, Postdoctoral Research Associate - Kmm87 at medschl.cam.ac.uk  

Mrs Angela Reynolds, Data Manager - ar722 at medschl.cam.ac.uk  

Dr Dinesh Shah, Postdoctoral Research Associate - dss57 at medschl.cam.ac.uk  

Miss Lynne Stanley, Research Study Coordinator  - ls824 at medschl.cam.ac.uk  

Dr Agatha Van der Klaauw, Senior Clinical Research Associate - av330 at medschl.cam.ac.uk  

Funding 

Wellcome Trust 

NIHR Cambridge Biomedical Research Centre 

NIHR Senior Investigator Award 

Bernard Wolfe Endowment 

Leducq Foundation 

Publications

Key publications: 

Argente J, Verge CF, Okorie U, Fennoy I, Kelsey MM, Cokkinias C, Scimia C, Lee HM, Farooqi IS. Setmelanotide in patients aged 2-5 years with rare MC4R pathway-associated obesity (VENTURE): a 1 year, open-label, multicenter, phase 3 trial. Lancet Diabetes Endocrinol. 2025 Jan;13(1):29-37. PMID: 39549719

Farooqi IS, Xu Y. Translational potential of mouse models of human metabolic disease. Cell. 2024 July; PMID: 39067442. 

Li Y, Cacciottolo TM, Yin N, He Y, Liu H, Liu H, Yang Y, Henning E, Keogh JM, Lawler K, Mendes de Oliveira E, Gardner EJ, Kentistou KA, Laouris P, Bounds R, Ong KK, Perry JRB, Barroso I, Tu L, Bean JC, Yu M, Conde KM, Wang M, Ginnard O, Fang X, Tong L, Han J, Darwich T, Williams KW, Yang Y, Wang C, Joss S, Firth HV, Xu Y, Farooqi IS. Loss of transient receptor potential channel 5 causes obesity and postpartum depression. Cell. 2024 Jun; PMID: 38959890. 

He Y, Brouwers B, Liu H, Liu H, Lawler K, Mendes de Oliveira E, Lee DK, Yang Y, Cox AR, Keogh JM, Henning E, Bounds R, Perdikari A, Ayinampudi V, Wang C, Yu M, Tu L, Zhang N, Yin N, Han J, Scarcelli KA, Yan Z, Conde KM, Potts C, Bean JC, Wang M, Hartig SM, Liao L, Xu J, Barroso I, Mokrosinski J, Xu Y, Farooqi SI. Human loss-of-function variants in the Serotonin 2C receptor associated with obesity and maladaptive behaviour. Nature Medicine 2022 Dec 19; PMID: 36536256. 

Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAculay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS, Obesity-Associated GNAS Mutations and the Melanocortin Pathway. New England Journal of Medicine, 2021 October; PMID: 34614324 

Lotta LA, Mokrosiński J, Mendes de Oliveira E, Li C, Sharp SJ, Luan J, Brouwers B, Ayinampudi V, Bowker N, Kerrison N, Kaimakis V, Hoult D, Stewart ID, Wheeler E, Day FR, Perry JRB, Langenberg C, Wareham NJ, Farooqi IS. Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity  Cell. 2019 Apr 18;177(3):597-607.e9. doi: 10.1016/j.cell.2019.03.044 

Riveros-McKay F, Mistry V, Bounds R, Hendricks A, Keogh JM, Thomas H, Henning E, Corbin LJ; Understanding Society Scientific Group, O’Rahilly S, Zeggini E, Wheeler E, Barroso I, Farooqi IS. Genetic architecture of human thinness compared to severe obesity. PLoS Genet. 2019 Jan 24;15(1):e1007603. doi: 10.1371/journal.pgen.1007603. 

Professor of Metabolism and Medicine
Wellcome Trust Principal Research Fellow 
photo of sadaf farooqi
Collaborator profiles: 
Professor Sir Stephen O'Rahilly
Classifications: 
Principal Investigators

Study at Cambridge

About the University

Research at Cambridge