Rate Professor David Sillence

Professional Summary: Professor David Sillence

Professor David Sillence is a distinguished medical geneticist and academic at the University of Sydney, Australia. With a career spanning several decades, he is widely recognized for his contributions to the field of genetic medicine, particularly in the study of inherited bone disorders and rare genetic conditions. His work has had a significant impact on clinical diagnostics and patient care in the field of medical genetics.

Academic Background and Degrees

Professor Sillence holds the following qualifications:

• MBBS (Bachelor of Medicine, Bachelor of Surgery) - University of Sydney
• MD (Doctor of Medicine) - University of Sydney
• FRACP (Fellow of the Royal Australasian College of Physicians)

Research Specializations and Academic Interests

Professor Sillence specializes in:

• Medical genetics, with a focus on inherited skeletal dysplasias such as osteogenesis imperfecta (brittle bone disease)
• Classification and diagnosis of rare genetic disorders
• Clinical genetics and genetic counseling

His research has contributed to the development of diagnostic frameworks and improved understanding of the genetic mechanisms underlying bone disorders.

Career History and Appointments

Professor Sillence has held several notable positions during his career:

• Professor of Medical Genetics, University of Sydney
• Director of the Genetics Unit, Westmead Hospital, Sydney
• Consultant Geneticist at various hospitals and research institutions in Australia

Major Awards, Fellowships, and Honors

Professor Sillence has been recognized for his contributions to medical genetics with the following honors:

• Member of the Order of Australia (AM) for services to medicine in the field of human genetics (2005)
• Recognition for his work on the Sillence Classification of Osteogenesis Imperfecta, a widely used diagnostic framework

Key Publications

Professor Sillence has authored numerous influential papers and articles in the field of medical genetics. Some key works include:

• Sillence, D.O., Senn, A., & Danks, D.M. (1979). 'Genetic heterogeneity in osteogenesis imperfecta.' Journal of Medical Genetics.
• Sillence, D.O. (1988). 'Osteogenesis imperfecta: An expanding panorama of variants.' Clinical Orthopaedics and Related Research.
• Multiple contributions to textbooks and chapters on skeletal dysplasias and genetic disorders.

Influence and Impact on Academic Field

Professor Sillence is best known for developing the Sillence Classification of Osteogenesis Imperfecta, a seminal framework that categorizes the condition into distinct types based on clinical and genetic characteristics. This classification remains a cornerstone in the diagnosis and management of the disorder worldwide. His work has advanced the understanding of rare genetic conditions, improved diagnostic accuracy, and informed clinical practices in medical genetics.

Public Lectures, Committees, and Editorial Contributions

Professor Sillence has been actively involved in the academic and medical community through:

• Delivering keynote addresses and lectures at international conferences on medical genetics and skeletal dysplasias
• Serving on advisory committees for genetic research and rare disease organizations
• Contributing as a reviewer and editorial board member for peer-reviewed journals in genetics and pediatrics