David Owen Sillence (born 1944) is an

academic An academy (Attic Greek: Ἀκαδήμεια; Koine Greek Ἀκαδημία) is an institution of secondary or tertiary higher learning (and generally also research or honorary membership). The name traces back to Plato's school of philosophy, ...

and

medical geneticist Medical genetics is the branch tics 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 caus ...

. He is an

emeritus professor ''Emeritus'' (; female: ''emerita'') is an adjective used to designate a retired chair, professor, pastor, bishop, pope, director, president, prime minister, rabbi, emperor, or other person who has been "permitted to retain as an honorary title ...

at the

University of Sydney The University of Sydney (USYD), also known as Sydney University, or informally Sydney Uni, is a public research university located in Sydney, Australia. Founded in 1850, it is the oldest university in Australia and is one of the country's ...

, where he was the foundation chair (Professor) of

Medical Genetics Medical genetics is the branch tics 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 caus ...

. An honours graduate of the University of Sydney, he obtained his MD in Medical Genetics from the

University of Melbourne The University of Melbourne is a public research university located in Melbourne, Australia. Founded in 1853, it is Australia's second oldest university and the oldest in Victoria. Its main campus is located in Parkville, an inner suburb no ...

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 The American College of Medical Genetics and Genomics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of ...

(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 The Royal Australasian College of Physicians (RACP) is a not-for-profit professional organisation responsible for training and educating physicians and paediatricians across Australia and New Zealand. The RACP is responsible for training both ...

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 th
International Nomenclature Committee for Constitutional Disorders of the Skeleton
the International mucopolysaccharidosis type I expert committee, the National

Fabry Disease Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. T ...

and MPS expert committees for the LSDP. Sillence was instrumental in establishing the first working party to write guidelines for training in

Clinical Genetics Medical genetics is the branch tics 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 caus ...

in Australia and was granted Clinical Geneticist status (1987) through the

grandfather clause A grandfather clause, also known as grandfather policy, grandfathering, or grandfathered in, is a provision in which an old rule continues to apply to some existing situations while a new rule will apply to all future cases. Those exempt from t ...

. 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. Sillence created the standard four-type system of

osteogenesis imperfecta Osteogenesis imperfecta (; OI), 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 b ...

in 1979. 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. Sillence was made a Member of the

Order of Australia The Order of Australia is an honour that recognises Australian citizens and other persons for outstanding achievement and service. It was established on 14 February 1975 by Elizabeth II, Queen of Australia, on the advice of the Australian Gov ...

(AM) in the 2013 Australia Day Honours.

References

{{DEFAULTSORT:Sillence, David Living people Australian geneticists Medical researchers Medical geneticists Australian clinical geneticists Fellows of the Royal Australasian College of Physicians University of Sydney alumni Academic staff of the University of Sydney University of Melbourne alumni 1944 births