Robert K. Semple
教授
The University of Cambridge Metabolic Research Laboratories
Wellcome Trust-MRC Institute of Metabolic Science;The National Institute for Health Research Cambridge Biomedical Research Centre;Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh;Metabolic Research Laboratories, Department of Clinical Biochemistry, University of Cambridge
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基本信息
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个人简介
My main interest is in the pathophysiology of abnormal insulin action in human disease. In particular, I would like to gain insights into the nature and mechanisms of “common” insulin resistance, and into potentially modifiable mechanisms linking it to major diseases such as type 2 diabetes, fatty liver, dyslipidaemia, subfertility and cancer. In an attempt to achieve this, the lab focuses on the genetic, cellular and molecular basis of extreme human disorders of insulin action, whether genetic or antibody-mediated, and ranging from severe insulin resistance to spontaneous non insulin-dependent hypoglycaemia. I am particularly interested in disorders that couple these metabolic disturbances to abnormal growth. As well as undertaking mechanistically informative studies of relevance to common disease, I have a major translational interest in improving diagnostic pathways and therapy for patients with these rare disorders. Core approaches include physiological phenotyping of humans with rare genetic syndromes, dissection of insulin action in primary cells from affected patients ex vivo, and identification of causative genetic defects using hypothesis-led and non hypothesis driven genetic approaches. Particular interest in the lab at the moment is focussed on disorders involving gain or loss of function of phosphatidylinositol-3-kinase/AKT signalling, on the links among impaired centrosomal function, DNA damage responses and severe insulin resistance, and on developing novel diagnostic strategies and therapies for patients with insulin receptor mutations, or antibodies interfering with insulin action.
研究兴趣
论文共 338 篇作者统计合作学者相似作者
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biorxiv(2024)
Eleanor J. McKay,Ineke Luijten,Xiong Weng, Pablo B. Martinez de Morentin, Elvira De Frutos González,Zhanguo Gao,Mikhail G. Kolonin,Lora K. Heisler,Robert K. Semple
Communications medicineno. 1 (2024): 57-57
medRxiv (Cold Spring Harbor Laboratory) (2023)
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Karla J. Suchacki,Lynne E. Ramage, T’ng Choong Kwok, Alexandra Kelman,Ben T. McNeill, Stewart Rodney, Matthew Keegan,Calum Gray,Gillian MacNaught,Dilip Patel,Alison M. Fletcher, Joanna P. Simpson,
Nature Metabolismno. 8 (2023): 1319-1336
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Orphanet Journal of Rare Diseasesno. 1 (2023): 1-10
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medRxiv : the preprint server for health sciences (2023)
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