David Sillence

David Sillence is Emeritus Professor of Medical Genetics in the Faculty of Medicine and Health at the University of Sydney, associated with the Children's Hospital Westmead Clinical School. An honours graduate, he received his MBBS from the University of Sydney and MD in Medical Genetics from the University of Melbourne in 1978. He holds fellowships as FRACP, FRCPA, FAFPHM, and FAFRM. Key appointments include Foundation Head of the Department of Clinical Genetics at the Royal Alexandra Hospital in 1984, Foundation Professor of Medical Genetics at the University of Sydney in 1988, and Foundation Head of the Discipline of Genetic Medicine in 2005. Sillence established clinical genetics services in the Asia-Pacific region and was granted Clinical Geneticist status in 1987.

His academic interests center on the genetics, pathogenesis, and treatment of skeletal dysplasias, metabolic bone disorders, and osteopenic conditions in children, particularly osteogenesis imperfecta (OI). In 1979, Sillence introduced the standard four-type classification for OI, delineating genetic heterogeneity and phenotypes, which remains foundational for diagnosis and management worldwide. He pioneered bone densitometry in Australian children and led the systematic treatment of osteoporosis in pediatric OI patients. Major publications include "Genetic heterogeneity in osteogenesis imperfecta" (Journal of Medical Genetics, 1979), "Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment" (American Journal of Medical Genetics Part A, 2014), and "Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025" (Journal of Medical Genetics, 2025). With over 130 original articles, more than 30 book chapters, and eight books or monographs to his credit, his work has garnered over 14,000 citations. Sillence contributed to training guidelines for clinical genetics in Australia, served as spokesperson for the International Nomenclature Committee for Constitutional Disorders of the Skeleton, and held leadership roles in the Human Genetics Society of Australasia, delivering its Oration in 2012. In 2013, he was appointed Member of the Order of Australia (AM) for services to medicine.

Professional Email: david.sillence@sydney.edu.au