Prof Karen Temple
MBCHB, FRCP, MD
Prof of Medical Genetics, Honorary Consultant in Clinical Genetics
Profile page(s)
Dr Karen Temple's major research interests include genomics, epigenomics and clinical characterization of childhood developmental disorders. She is recognized for her identification of new genetic imprinting syndromes, including Temple syndrome, and has pioneered research into the epigenetic causes of transient neonatal diabetes (TND).
She is past Director of the Wessex Genome Medicine Centre, the Academic Unit of Human Development and Health in the Southampton Faculty of Medicine, and President of the UK Clinical Genetics Society. She co-led the previous Data Science cross-cutting theme of the Southampton BRC.
Landmark publications:
Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs PA. Maternal uniparental disomy for chromosomes 14. J Med Genet: 1991; 28:511-514. PMCID: PMC1016977
Temple I K, James RS, Crolla JA, Sitch FL, Betts P, Jacobs PA. An imprinted gene(s) for diabetes? Nature Genetics: 1995; 9:110-112 PMID: 7719335; DOI: 10.1038/ng0295-110.
Mackay DJG, JLA Calloway, SM Marks, HE White, CL Acerini, SE Boonan, P Dayanikli, HV Firth, JA Goodship, AP Haemers, JMD Hahnemann, O Kordonouri, AF Masoud, E Ostergaard, J Storr, S Ellard, AT Hattersley, DO Robinson, IK Temple. Hypomethylation at multiple imprinted loci in individuals with transient neonatal diabetes is associated with ZFP57 mutations. Nature Genetics: 2008; 40: 949-51. https://doi.org/10.1038/ng.187.
Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018; 55:497–504. DOI: 10.1136/jmedgenet-2017-105190.
Lokulo-Sodipe, O., Ballard, L., Child, J., Inskip, H., Byrne, C., Moore, G. E., ... Temple, I. K. (2020). The phenotype of genetically confirmed Silver-Russell syndrome beyond childhood. Journal of Medical Genetics, 57(10), 683-691. https://doi.org/10.1136/jmedgenet-2019-106561
Deciphering Developmental Disorders Study, Kaplanis, J., Samocha, K. E., Wiel, L., & et al. (2020). Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), 757–762. https://doi.org/10.1038/s41586-020-2832-5
Smedley, Damian & Smith, Katherine & Martin, Antonio & Thomas, Ellen & McDonagh, Ellen & Cipriani, Valentina & Ellingford, Jamie & Arno, Gavin & Tucci, Arianna & Vandrovcova, Jana & Chan, Georgia & Williams, Hywel & Ratnaike, Thiloka & Wei, Wei & Stirrups, Kathleen & Ibáñez, Kristina & Moutsianas, Loukas & Wielscher, Matthias & Need, Anna & Caulfield, Mark. (2021). 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care. New England Journal of Medicine. 385. 1868-1880. 10.1056/NEJMoa2035790.
Major grants:
2011-2015 MRC (Co applicant): Identifying factors required for genomic DNA methylation using the imprinting control protein ZFP57; £611,000
2013-2016 Cost IMPRINTID consortium FP7 (Intergovernmental framework for European Cooperation in Science and Technology, allowing the coordination of nationally-funded research on a European level) WG leader; £383,000
2012-2017 NIHR Research for Patient Benefit (RfPB) Programme (PI): Is Growth Hormone treatment a long term benefit for patients with Silver Russell Syndrome?; £250,000
2015-2017 NHSE, (PI); Wessex Genome Medicine Centre, Infrastructure grant; £1,500,000
2014-2017 Wessex AHSN/UHS/UoS (co-PI): Wessex Exome Pilot; £705,000
2017 UHS Charity (PI): Wessex Genome laboratory; £196,000
2016-2017 NHSE; Genome Medicine Centre genomics £1,100,000
2017-2022 NIHR (Co-applicant, PI for Data Science cross cutting theme); Southampton BRC; £14,509,067
2018 NIHR Bioresource Southampton (co-applicant); £500,000
2018-2020 Childhood Growth Foundation (co PI); £85,000
Impact example:
Imprinting disorders (IDs) are a group of congenital conditions caused by genetic and epigenetic mutations in genes whose expression is regulated by the parent from whom they are inherited. Imprinting disorders affect growth, development, metabolism and behaviour, in ~1:5000 children worldwide, offering an extreme paradigm of the developmental origins of human lifecourse disease.
IKT (and Prof Deborah Mackay) have identified new imprinting conditions and underlying molecular mechanisms. Their work is yielding personalised treatments, world-wide diagnostic testing, specialist clinics and international guidelines. The research has illuminated the molecular machines that re-set gene expression every generation at the very onset of human development.