Peter Clayton
Emeritus Professor of Child Health and Paediatric Endocrinology
University of Manchester
Manchester, UK
University of Manchester
Manchester, UK
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Pharmacogenomics, the study of how genetic variation across the whole genome impacts drug response, can help guide diagnosis and therapies [Stevens, 2021]. Pharmacogenomics encompasses proteomics, transcriptomics, metabolomics and metagenomics, and analysis of these genetic factors, as well as personal and environmental factors, increasingly involves artificial intelligence to cope with the extreme data complexities [Sadee, 2023]. The aim of pharmacogenomics is to optimize health care for individual patients with the use of predictive biomarkers to improve outcomes and prevent adverse effects from medication [Sadee, 2023]. Pharmacogenomic evidence suggests that the response to rhGH is polygenic [Dauber, 2020], and the level of knowledge surrounding the response to rhGH should enable the development of a pretreatment blood test to predict an individual’s response to treatment [Stevens, 2021]. Pharmacogenomics, both in general, and for growth disorders, is a powerful tool, but clinical application of findings has limitations including unknown validity of findings across ethnic groups, underlying bias in healthcare and real-world validation [Sadee, 2023]. The aim of this podcast is to increase the current state of knowledge of the research into pharmacogenomics in growth disorders, and how it can be extrapolated to clinical practice to enhance personalization and precision of treatment of patients.
After listening to this activity, learners should be able to:
Clinicians, particularly paediatricians, working in growth disorder management and those in general practice; some content of interest to specialist growth disorder nurses.
English with voice-over into Spanish and Korean.
Podcast & Infographic
Growth decoded: Managing pharmacogenomics and AI to transform hormone therapy predictions
Martin Savage is Emeritus Professor of Paediatric Endocrinology at William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary, University of London. He was head of the Paediatric Endocrine Unit at Barts and the London School of Medicine from 1982 to 2007. He has interests in growth disorders, specifically those with abnormalities in the GH-IGF-1 axis and in phenotype-genotype relationships of GH-IGF-1 axis defects, notably GH resistance. He published the first human case of an IGF-1 gene defect in the New England Journal of Medicine in 1996. His other interests are Cushing’s syndrome and growth in chronic inflammatory diseases. He was General Secretary of the European Society for Paediatric Endocrinology (ESPE) from 1997 to 2004. He has lectured in 60 countries and has published 482 original articles, reviews, textbook chapters and books. In 2007, he was awarded the ESPE Andrea Prader Prize for contributions to paediatric endocrinology and in 2018 he received a Visionary Award from the American Human Growth Foundation. In 2022, he received a Research Excellence Award from the Dr Sulaiman Al Habib Medical Journal in Riyadh, and the British Society of Paediatric Endocrinology & Diabetes James M. Tanner Lifetime Achievement Award. He continues to lecture nationally and internationally.
Peter Clayton is Emeritus Professor of Child Health and Paediatric Endocrinology at the University of Manchester. For 30 years he has been a clinical consultant at the Royal Manchester Children’s Hospital and at the Christie (Cancer) Hospital. His primary research interest is centred on understanding mechanisms leading to disordered growth, using clinical, genomic, in-vitro and in-vivo approaches. He has led a research team of clinicians and scientists, whose work has spanned basic science through to clinical trials, with a focus on translation to patient care. His current clinical interests include genomic approaches to prediction of responses to growth hormone therapy and late endocrine effects of childhood cancer treatment (the Brainatomy study). He served as General Secretary of the European Society of Paediatric Endocrinology between 2015 and 2019. He is currently Senior Medical Adviser and Consultant (part time) with Lumos Pharma, Austin Texas, who are undertaking trials on the use of an oral growth hormone (GH) secretagogue in paediatric GH deficiency
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