David Sillence

David Sillence, MD

Geneticist (Australia)

Professor Sillence is the foundation chair of Medical Genetics in the University of Sydney. An honours graduate of the University of Sydney, he obtained his MD in Medical Genetics from the University of Melbourne 1978.

He serves on the education committee of the Human Genetics Society of Australasia, the International Nomenclature Committee for Constitutional Disorders of the Skeletal, the International Mucopolysaccharidosis type I expert committee, the National Fabry Disease and MPS expert committees for the LSDP. David Sillence’s current research interests include a) Genetics and treatment of osteopenic and other metabolic bone disorders of childhood, b) Characterization of the molecular genetics and pathogenesis of specific skeletal birth defects in mouse and man, c) Consanguinity and paediatric morbidity/population genetics of consanguinity in Middle Eastern Populations, d) Evaluation of Innovative Genetic Therapies. These studies are being undertaken with a range of collaborators from within the Children’s Hospital at Westmead, the research institutes in Sydney and with overseas geneticists. Our studies in the genetics and treatment of osteopenic and other metabolic bone disorders has lead to the development of i) Normal range of bone density and skeletal metabolise in children, ii) a delineation of the natural history of various skeletal disorders collectively known as Osteogenesis Imperfecta and iii) the definition of the specific conditions for treatment of these disorders with Bisphosphonates. Professor Sillence has also worked closely with the Victor Chang Developmental Biology Unit at the Garvan Institute in Sydney in developing an approach to studying congenital anomalies of spine development. Professor Sillence has over considerable period developed studies related to consanguinity and paediatric morbidity. Future research involves a detailed analysis of the disorders in specific populations. This will allow us to develop population screening technologies and so be able to offer couples accurate population specific genetic testing in the future. Our approaches include Autozygosity Mapping to characterize rare autosomal recessive disorders in the client populations. The collaborative group is developing a confidential register of information about rare disorders in these population. David Sillence also formed the centre for the evaluation of Innovative Genetic Therapies at the Westmead Hospital and the Children’s Hospital at Westmead to evaluate innovative therapies such as Enzyme Replacement and Substrate Reduction Therapies in the treatment of Lysosomal Storage Disorders in Adults and Children.