A unique feature of endocrinology research at the William Harvey Research Institute (WHRI) is our focus on life-course consequences of endocrine and metabolic diseases from conception to old-age and their biological bases.
Clinical and research collaboration between paediatric and adult endocrinologists is delivering ground-breaking discoveries and an international patient referral base, providing access to unique patients and families.
Our Discovery Science and Experimental Medicine successes include achieving major advances in understanding the nature and causes of Familial Pituitary Adenoma and identifying six novel genes causing Familial Glucocorticoid Deficiency, thereby providing new insights into the cellular processes regulating steroidogenesis. Adrenal and pituitary development, mitochondrial and stem cell physiology and intracellular trafficking are complementary ongoing research interests at Endocrinology, as is the study of novel genes underlying the timing of puberty, the risk of dyslipidemia and rare bone diseases.
The translational aspects of our work are both inspired and supported by our clinical and basic research collaboration, which continues to serve us well in attracting high-quality clinical and non-clinical PhD students and more senior investigators to this truly international centre of excellence.
- Understanding the pathophysiology and genealogy of Familial Pituitary Adenomas (NEJM, JCEM, Human Mutation), as well as increasing public awareness of these adenomas, for example through establishment of International Patient Support Services
- Adrenal failure caused by oxidative stress and loss of genome stability (Nat Genet, JCEM, JCI)
- Adrenocortical development promoted by Sonic hedgehog (Shh)-independent and Shh-dependent signalling (PNAS)
- Screening for growth disorders (JAMA, JCEM)
- Postnatal pituitary-ovarian activation important for normal female reproductive development (JCEM)
- Lead in formulating the NICE guidelines for managing paediatric and adult growth disorders due to our long-standing contribution in the management of these conditions
- Mitochondrial dynamics regulated by chaperone domain protein sacsin (PNAS)
- Cholesterol synthesis impacts on intracellular trafficking (JBC)
- Cellular microenvironment modulates cilia-mediated signalling (JCS)
- Accessory proteins and molecular chaperones regulate GPCR signalling (PNAS, Mol Endo)
- Knowledge transfer to clinicians through distance learning.
- Significant MRC, Wellcome, BHF, BTLC, EU, NIHR, BBSRC funding, as well as funds from industrial collaborators, ensure our clinical and research collaboration.
- Enviable track-record of securing funding for clinical training and clinical scientist fellowships from MRC and Wellcome Trust, as well as the Bart’s and London Charity
- MSc Endocrinology and Diabetes
Our partnership with Clinical Endocrinology at Barts Health NHS Trust at St. Bartholomew’s Hospital enables detailed studies of pathogenesis and therapeutic options for rare and common endocrine and metabolic diseases.