Rate My Professor Eamonn Maher

Professor Eamonn Maher serves as Dean of Aston Medical School within the College of Health and Life Sciences at Aston University, a role he assumed in October 2023. Prior to this appointment, he was Head of the Department of Medical Genetics and Professor of Medical Genetics and Genomic Medicine at the University of Cambridge. He previously held the position of Professor of Medical Genetics and Academic Lead for the Centre for Rare Diseases and Personalised Medicine at the University of Birmingham. Additionally, Professor Maher served as the National Institute for Health and Care Research Clinical Research Network National Specialty Lead for Genetics. His current role includes a joint clinical academic contract with Birmingham Women’s and Children’s NHS Foundation Trust, where he acts as an Honorary Consultant in Clinical Genetics. Throughout his career, he has demonstrated leadership in advancing medical education, research agendas, and strategic partnerships in genomics.

Professor Maher is a leading expert in medical genetics and genomic medicine, with primary research interests in cancer genetics, human developmental genetics, epigenetics of human disease, genomic imprinting, and genetic predisposition to cancer. He has authored over 400 research papers in scientific journals, alongside numerous reviews and book chapters. Key publications include 'The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis' (Nature, 1999), 'Identification of the von Hippel-Lindau disease tumor suppressor gene' (Science, 1993), 'Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma' (American Journal of Human Genetics, 2001), 'Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas' (Nature Genetics, 2013), and 'VHL, the story of a tumour suppressor gene' (Nature Reviews Cancer, 2015). He received an ERC Advanced Researcher Award for investigations into the molecular basis of inherited renal cell carcinoma (2013-2018). Professor Maher has supervised more than 25 PhD and MD students and continues to mentor researchers at Aston University. In June 2024, he delivered his inaugural public lecture at Aston titled 'Rare genetic diseases and Genomics: Past, Present and Future'. His prolific output and high-impact research have profoundly shaped understanding in medical genetics and related fields.