David Sillence

David Sillence, AM is the foundation chair (Professor) 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 in Bone Dysplasias.

David Sillence was a founding member of the Human Genetics Society of Australasia (1978), the Australian Teratology Society (1981), the Australian Faculty of Public Health Medicine (1990), and the American College of Medical Genetics (1993) and has held office in the Human Genetics Society of Australasia from 1981 to 2000, often with more than one concurrent position. He has also held office in the Royal Australasian College of Physicians from 1994 to 2000. He has been a member of many committees within the School of Public Health and Tropical Medicine, and the University of Sydney. He currently 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 was instrumental in establishing the first working party to write guidelines for training in Clinical Genetics in Australia and was granted Clinical Geneticist status (1987) through the grandfather clause. This certification model has been used by other Special Interest Groups within the Human Genetics Society of Australasia. He has been involved in a considerable amount of collaborative research as well as those within his department. He has published over 130 original articles, has contributed over 30 book chapters, 8 books/monographs, and has contributed to conference proceedings more than a dozen times. He has been a peer reviewer/editor to 8 different groups/journals. (http://en.scientificcommons.org/david_sillence, http://www.biomedexperts.com/Profile.bme/1308498/David_Sillence )

David Sillence has obtained scholarships and awards throughout his career: a Bursary and Scholarship to attend the University of Sydney, a vacation fellowship, Honours at Graduation, Research Fellowship, Travelling Fellowship, and Fulbright Fellowship. He has been outstanding in his efforts to obtain grants from charitable foundations, societies, commercial entities and NH&MRC. All these grants have been used to further the worldwide knowledge in genetics and especially Osteogenesis Imperfecta.

David Sillence has been a member of non-institutional committees, such as the Birth Defects Registers Sub-Committee and Genetics Services Advisory Committee. It was through his vision and that a five-year plan (1993–1998) for the provision of Genetic Services in NSW was written, became policy and was implemented. This has led to the establishment of the current Clinical Genetics network throughout the state of NSW.

David Sillence has served on the boards, Medical and Scientific Advisory Committees of OI Society, Association of Persons with Short Stature, Mucopolysaccharidosis Society of Australia, Huntington Disease Association of NSW and Association of Genetic Support of Australasia.

David Sillence created the first classification system for Osteogenesis Imperfecta that he later developed further to be the world standard. It enabled progress into the molecular causes of the disorder and collagen mutations. (Sillence DO, Senn A, Danks DM (1979). "Genetic heterogeneity in osteogenesis imperfecta". J. Med. Genet. 16 (2): 101–16. doi:10.1136/jmg.16.2.101. PMID 458828.)

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. Previous studies in the genetics and treatment of osteopenic and other metabolic bone disorders has led to the development of i) Normal range of bone density and skeletal metabolites 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.

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.(Mellor, L. 150 Years, 150 Firsts: The People of the Faculty of Medicine (2006) Sydney, Sydney University Press)

In 2012, David delivered the Human Genetics Society of Australasia Oration, a prestigious lecture given by a senior member of the HGSA who has contributed significantly to the discipline over many years. David was made a Member of the Order of Australia (AM) in the 2013 Australia Day Honours.