David Sillence
Encyclopedia
David Sillence 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 Group
s 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/monograph
s, 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 Bisphosphonate
s.
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)
Medical genetics
Medical genetics is the specialty 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, but medical genetics refers to the...
in the University of Sydney
University of Sydney
The University of Sydney is a public university located in Sydney, New South Wales. The main campus spreads across the suburbs of Camperdown and Darlington on the southwestern outskirts of the Sydney CBD. Founded in 1850, it is the oldest university in Australia and Oceania...
. An honours graduate of the University of Sydney, he obtained his MD in Medical Genetics from the University of Melbourne
University of Melbourne
The University of Melbourne is a public university located in Melbourne, Victoria. Founded in 1853, it is the second oldest university in Australia and the oldest in Victoria...
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
American College of Medical Genetics
The American College of Medical Genetics is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice 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
Royal Australasian College of Physicians
The Royal Australasian College of Physicians, or RACP, is the organisation responsible for training, educating, and representing over 9,000 physicians and paediatricians in Australia and New Zealand. It was founded in 1938....
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
Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and...
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
Grandfather clause
Grandfather clause is a legal term used to describe a situation in which an old rule continues to apply to some existing situations, while a new rule will apply to all future situations. It is often used as a verb: to grandfather means to grant such an exemption...
. This certification model has been used by other Special Interest Group
Special Interest Group
A Special Interest Group is a community with an interest in advancing a specific area of knowledge, learning or technology where members cooperate to effect or to produce solutions within their particular field, and may communicate, meet, and organize conferences...
s 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/monograph
Monograph
A monograph is a work of writing upon a single subject, usually by a single author.It is often a scholarly essay or learned treatise, and may be released in the manner of a book or journal article. It is by definition a single document that forms a complete text in itself...
s, 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
Osteogenesis imperfecta
Osteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
.
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
Molecular genetics
Molecular genetics is the field of biology and genetics that studies the structure and function of genes at a molecular level. The field studies how the genes are transferred from generation to generation. Molecular genetics employs the methods of genetics and molecular biology...
and pathogenesis
Pathogenesis
The pathogenesis of a disease is the mechanism by which the disease is caused. The term can also be used to describe the origin and development of the disease and whether it is acute, chronic or recurrent...
of specific skeletal birth defects in mouse and man, c) Consanguinity
Consanguinity
Consanguinity refers to the property of being from the same kinship as another person. In that respect, consanguinity is the quality of being descended from the same ancestor as another person...
and paediatric morbidity/population genetics
Population genetics
Population genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
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
Bone density
Bone density is a medical term normally referring to the amount of mineral matter per square centimeter of bones. Bone density is used in clinical medicine as an indirect indicator of osteoporosis and fracture risk.This medical bone density is not the true physical "density" of the bone, which...
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 Bisphosphonate
Bisphosphonate
Bisphosphonates are a class of drugs that prevent the loss of bone mass, used to treat osteoporosis and similar diseases...
s.
David Sillence also formed the centre for the evaluation of Innovative Genetic Therapies at the Westmead Hospital
Westmead Hospital
Westmead Hospital is a major 975 bed tertiary hospital in Sydney, Australia, opened on 10 November 1978 by the then Premier, Neville Wran, and guest of honour was former Prime Minister Gough Whitlam...
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)