Prof Steve Jeffery’s research focus mainly lies within lympho-vascular medicine.
Professor Steve Jeffery is a human geneticist who specialises in studying the lymphatic system, and the diseases caused when there are gene malfunctions in that system, collectively known as lymphoedema. This research involves close working links with Clinicians in Lymphovascular Medicine (Professor Peter Mortimer and Dr Kristiana Gordon), Clinical Genetics (Professor Sahar Mansour and Mr Glen Brice), and the Lymphoedema clinics at St George’s Hospital, a world renowned centre of human lymphatic research and patient management. In the laboratory the work is now led by Dr Pia Ostergaard, senior lecturer in Human Genetics.
Recently this work has primarily focussed on identifying the genes that are mutated to produce lymphoedema, and this has been an extremely successful area as the research group has been involved in finding 8 of the last 10 genes for human lymphoedema. Our primary aim has always been to try and find therapies for the disorder, where the only current treatments are manual drainage and compression garments. For this reason we have now added functional work to our gene hunting so that we can understand exactly what is going on biochemically in lymphatic disease. From this understanding we wish to find drug or gene therapy approaches that will produce eventual cures. We collaborate extensively both in the UK, and internationally.
Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P. (2016). EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. J Clin Invest. 126(8):3080-8.
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. (2015). Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Nat Commun. 6:8085.
Jones GE*, Ostergaard P*, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S. (2014). Microcephaly with or without chorioretinopathy, lymphoedema or mental retardation (MCLMR); review of phenotype associated with KIF11 mutations. Eur. J. Hum. Genet. 22:881-887.
Gordon K, Schulte D, Brice G, Simpson MA, Roukens MG, van Impel AW, Connell F, Kalidas K, Jeffery S, Mortimer PS, Mansour S, Schulte-Merker S, Ostergaard P. (2013). A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like Primary Lymphedema. Circ Res., 112(6):956-60.
Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mortimer PS, Mansour S, Ostergaard P. (2013). FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of published variants and database update. Hum. Mutat, 34:23-31.
Connell FC, Gordon K, Brice G, Keeley V, Jeffery S, Mortimer PS, Mansour S, Ostergaard P (2013). The Classification and Diagnostic Algorithm for Primary Lymphatic Dysplasia: an update from 2010 to include molecular findings. Clin. Genet. 84:303-14.
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