Lou Metherell

Professor Lou Metherell is a Professor of Endocrine Genetics at Queen Mary University of London's William Harvey Research Institute (WHRI), part of the Faculty of Medicine and Dentistry. She leads research in the Centre for Endocrinology, focusing on genetic causes of endocrine disorders, particularly adrenal insufficiency and growth hormone insensitivity. Her academic journey includes a BSc in Biology from the University of Manchester (1985), a postgraduate diploma in Human Genetics from the University of Aberdeen, and a PhD from the University of Greenwich (1999). She joined the WHRI in 1998, becoming a Reader in 2012 and Professor in 2017. Her work has been funded by grants such as the Medical Research Council's New Investigator Research Grant (2008).

Research interests include the molecular basis of adrenal disorders, familial glucocorticoid deficiency (FGD), and growth hormone resistance. Notable contributions include identifying genetic mutations (e.g., MCM4, SGPL1, NNT) linked to adrenal dysfunction, and elucidating mechanisms in GHI via GH receptor pseudoexon activation. Collaborations span institutions like UCL, Cornell University, and the Technical University of Dresden.

Key publications explore FGD pathogenesis, SPLIS syndrome, and adrenal steroidogenesis. Her lab includes postdocs (Jack Williams, Chris Smith) and PhD students (Avi Maharaj, Dominika Grzesik). Funding partners include the MRC and Barts Charity. She advises on clinical sequencing for GHI cases and maintains a global research network to advance genetic diagnostics and therapies in endocrine disorders.