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David Owen Sillence | |
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Born | 1944 (age 79–80) |
Alma mater | University of Sydney; University of Melbourne |
Known for | Classification of osteogenesis imperfecta Founding clinical genetics in the Asia-Pacific |
Scientific career | |
Fields | Medical Genetics |
Institutions | University of Sydney; The Children's Hospital at Westmead |
Website | www |
David Owen Sillence [1] AM (born 1944) is an academic and medical geneticist. He is an emeritus professor at the University of Sydney, where he was the foundation chair (Professor) of Medical Genetics. An honours graduate of the University of Sydney, he obtained his MD in Medical Genetics from the University of Melbourne 1978 in bone dysplasia.
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 International Nomenclature Committee for Constitutional Disorders of the Skeleton, the International mucopolysaccharidosis type I expert committee, the National Fabry Disease and MPS expert committees for the LSDP.[ citation needed ]
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. [2]
Sillence created the standard four-type system of osteogenesis imperfecta in 1979. [3] It enabled progress into the molecular causes of the disorder and collagen mutations.
In 2012, Sillence delivered the Human Genetics Society of Australasia Oration, a prestigious lecture in his field. [4]
Sillence was appointed a Member of the Order of Australia (AM) in the 2013 Australia Day Honours. [5]
Osteogenesis imperfecta, colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth. Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination.
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Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP). It is one of the most frequently occurring autosomal dominant features in humans. Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people.
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