Professor Eamonn Maher

University of Cambridge
Department of Medical Genetics

Position: Head of Department
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Professor Eamonn Maher is pleased to consider applications from prospective PhD students.

Research description

Eamonn Maher is Professor of Medical Genetics and Genomic Medicine and Head of the Department of Medical Genetics. Prior to taking up this post in 2013 he was Professor of Medical Genetics and Academic Lead for the Centre for Rare Diseases and Personalised Medicine at the University of Birmingham. Eamonn has published around 400 research papers in scientific journals as well as reviews and book chapters in the fields of cancer genetics, human developmental genetics, epigenetics and genomic imprinting. He has a particular interest in research training for clinician and non-clinician scientists and had supervised more than 25 PhD or MD students to completion. Current research in Eamonn?s group relates to the molecular basis of inherited forms of renal cell carcinoma (supported by an ERC Advanced Researcher Award 2013-2018), phaeochromocytoma, multiple primary cancers, genomic imprinting disorders ( and developmental disorders.

Research Programme
Urological Malignancies

Key publications

Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, Canham N, Cole TR, Denes J, Hodgson SV, Irving R, Izatt L, Korbonits M, Kumar AV, Lalloo F, Morrison PJ, Woodward ER, Macdonald F, Wallis Y, Maher ER. A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2013;98:E1248-56  Lu X, Boora U, Seabra L, Rabai EM, Fenton J, Reiman A, Nagy Z, Maher ER. Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dubé tumour suppressor gene (FLCN). Oncogene. 2013 Feb 18. doi: 10.1038/onc.2013.27  Nahorski MS, Seabra L, Straatman-Iwanowska A, Wingenfeld A, Reiman A, Lu X, Klomp JA, Teh BT, Hatzfeld M, Gissen P, Maher ER. Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Hum Mol Genet. 2012; 21:5268-79  Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, StolteDijkstra I, Müller F, Pruijn GJ, Latif F, Maher ER. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet. 2012;44:277-84  Morris MR, Ricketts CJ, Gentle D, McRonald F, Carli N, Khalili H, Brown M,Kishida T, Yao M, Banks RE, Clarke N, Latif F, Maher ER. Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma. Oncogene. 2011;30:1390-401  Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N,Keenan S, Pasha S, Rahman F, Gentle D, Vreeswijk MP, Devilee P, Knowles MA, Ceylaner S, Trembath RC, Dalence C, Kismet E, Köseo?lu V, Rossbach HC, Gissen P, Tannahill D, Maher ER. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 2010;6:e1000833 Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat 2010;31:41-51 Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, Woods CG, Reik W, Maher ER. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (BeckwithWiedemann Syndrome). PLoS Genet. 2009;5:e1000423 Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER. Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst 2008;100:1260-2 Reviews Maher ER. Genomics and epigenomics of renal cell carcinoma. Semin Cancer Biol 2013;23:10-7 Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19:617-23 Maher ER. Genetics of familial renal cancers. Nephron Exp Nephrol 2011;118:e21-6 Lim DH, Maher ER. Genomic imprinting syndromes and cancer. Adv Genet 2010;70:145-75