Rajesh Thakker
FRS
May Professor of Medicine
- Consultant physician
The mission of the Academic Endocrine Unit is to investigate the molecular basis of important endocrine and metabolic disorders that principally affect calcium and phosphate homeostasis. These disorders may be due to endocrine neoplasia, renal tubular defects, or abnormalities of bone metabolism. Thus, the identification of the underlying mechanisms is expected to lead to advances in our understanding of a number of clinical disorders that result in endocrine tumour development, kidney stones and different types of bone disease including rickets and osteoporosis. The research activities can be broadly divided into 2 parallel but complementary programmes: 1) Endocrine tumours and related parathyroid; and 2) Renal tubular and hypercalciuric stone disorders.
Professor Thakker has been May Professor of Medicine since 1999, and heads a group of basic and clinical scientists with a track record of investigating the pathophysiology of human diseases. Professor Thakker and his team have carried out molecular, cellular, and physiological analyses of more than 15 disorders, with identification of their defective genes and functional studies that explain the disease phenotypes. This has resulted in the elucidation of: signalling and regulatory pathways downstream of the calcium-sensing receptor (CaSR) and their physiological relevance; molecular mechanisms of endocrine tumour formation and potential new therapeutic targets; and molecular and cellular aspects of renal tubular physiology. These insights continue to improve the care of patients with these disorders.
Professor Thakker’s work has been internationally recognised and he has received numerous awards. Recent awards include: the Louis V. Avioli Founder’s Award from the American Society for Bone and Mineral Research (ASBMR) (2009); the Parathyroid Medal from the Fondazione Raffaella Becagli (FIRMO, Italy) (2012); the Jack W. Coburn Endowed Lectureship from the American Society of Nephrology (ASN) (2012); the International Research Prize from the ASBMR (2015); and the Dale Medal from the Society for Endocrinology (UK) (2015). Professor Thakker was elected a Fellow of the Royal Society (FRS) in 2014.
Key publications
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Challenges and controversies in management of pancreatic neuroendocrine tumours in patients with MEN1
Journal article
Yates CJ. et al, (2015), The Lancet Diabetes and Endocrinology, 3, 895 - 905
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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Journal article
Nesbit MA. et al, (2013), Nat Genet, 45, 93 - 97
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Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
Journal article
Nesbit MA. et al, (2013), N Engl J Med, 368, 2476 - 2486
Recent publications
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Cinacalcet reverses short QT interval in Familial Hypocalciuric Hypercalcemia type 1
Journal article
Cuny T. et al, (2023), The Journal of Clinical Endocrinology & Metabolism
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GNA11 variants identified in patients with hypercalcemia or hypocalcemia
Journal article
Howles S. et al, (2023), Journal of Bone and Mineral Research
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Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
Journal article
Chinoy A. et al, (2023), J Pediatr
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A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome
Journal article
Kooblall KG. et al, (2023), JBMR Plus
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Global Challenges and New Horizons.
Journal article
Thakker RV., (2022), Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research