Fellow

Eamonn Maher is Professor of Medical Genetics, University of Birmingham His interest in clinical and molecular genetics was formulated through training with Professor Malcolm Ferguson-Smith in Cambridge, specifically in cancer and developmental genetics. In 1996 he moved to Birmingham as Professor of Medical Genetics where he now leads, a large clinical and molecular research group. His approach has been to use genomic investigation of human diseases to gain insight into biological processes. In the field of cancer genetics he identified the gene responsible for von Hippel Lindau disease and has applied this knowledge to the pathogenesis of other "sporadic" cancers, notably phaeochromocytoma and renal cell carcinoma. He was involved in the initial work describing that von Hippel Lindau is a major regulator of HIF. He has had a longstanding interest in epigenetics and has highlighted the importance of epigenetic inactivation of tumour suppressor genes in renal and other cancers. He has an established expertise in genetic imprinting and the implications of this for human growth and development. His group has mapped novel loci for a number of autosomal recessive disorders including Meckel-Gruber syndrome, Hallervorden-Spatz syndrome and congenital cataract. He has also identified novel disease genes for a range of diseases including Hermansky-Pudlak syndrome. The President will be giving a short tutorial on these syndromes at the tea break. Maher’s work has had a direct effect on clinical practice through the introduction of novel diagnostic molecular genetic testing in the West Midlands and East Anglian Genetic Laboratories,.