Prof. David Sillence: genetics is not the same as unknown diseases
Meet the Professor

Prof. David Sillence: genetics is not the same as unknown diseases

Submitted Nov 20, 2015. Accepted for publication Nov 30, 2015.

doi: 10.3978/j.issn.2224-4336.2015.12.07

The 11th Asia-Pacific Conference on Human Genetics 2015 (APCHG 2015) was held in Hanoi, Vietnam on September 16–19, 2015. The overall theme of the conference was: “Genetics and Genomics: The Path to Translational Medicine”, discussing about the progress of human genetics and genomics sciences from theory to practice. During this conference, the journal Translational Pediatrics (TP) was well presented in this meeting. The flyers of TP’s two focused issues, “Studies on Genetic Diseases for better therapies in Pediatrics” and “Genomic studies of pediatrics” were put into the delegate’s bag and reached more than 400 attendees.

With great honor, we had the chance to interview Prof. David Sillence, sharing with us his ideas towards genetics as well as the development of Asian genetics (Figure 1). As an expert in Brittle Bone Syndromes, Prof. Sillence also briefly updated the current status with us. For detailed information, please access to the video.

Figure 1 Prof. David Sillence: genetics is not the same as unknown diseases (1). Available online:

About the Professor

Prof. David Sillence (Figure 2), AM, MBBS (Syd), MD (Melb), FRACP, FRCPA, FAFPHM, FAFRM, is a Professor in the Discipline of Genetic Medicine in the University of Sydney and a Consultant Physician to the Connective Tissue Dysplasia Clinic and Centre for Children Bone Health at The Children’s Hospital at Westmead. He has worked in the field of genetic disorders of Bone and Mineral Metabolism for three decades. He has collaborated widely and with collaborators at The Children’s Hospital at Westmead has developed a comprehensive multidisciplinary program for the skeletal investigation and medical treatment of children with Heritable Disorders of Connective Tissue encompassing Osteogenesis Imperfecta, other genetic skeletal dysplasias and genetic bone and mineral disorders. Professor Sillence and his collaborators pioneered the evaluation of bone density by Dual Energy X-ray Absorptiometry in children in Australia and treatment of osteoporosis with various regimens of the class of drugs known as bisphosphonates. He is the spokesperson on osteogenesis imperfecta syndromes on behalf of the International Nomenclature Committee for Constitutional Disorders of the Skeleton.

Figure 2 Prof. Sillence and the Editor in APCHG 2015.
  • People usually thought genetics was only a branch of medicine with a few unknown or undiagnosed diseases. Is that right from the perspective of modern medicine? Could you briefly introduce the main steam role of genetics nowadays?
  • You have made tremendous contributions to the developments of genetic medicine, especially in the area of Brittle Bone Syndromes. Could you share with our audience the current status of this disease in Australia? What about the morbidity?
  • Your team pioneered the systematic treatment of Brittle Bone Syndromes in children in Australia. Is there any promising treatment for this disease?
  • Could you have a comment on the current development of Genetics in Asia?
  • You have been active in both research and clinical area for over 40 years. How could you do that? Do you have any suggestion to the young researchers?




Conflicts of Interest: The author has no conflicts of interest to declare.


  1. Molly J. Wang. Prof. David Sillence: genetics is not the same as unknown diseases. Asvide 2016;3:015. Available online:

(Science Editor: Molly J. Wang, TP,

Cite this article as: Wang MJ. Prof. David Sillence: genetics is not the same as unknown diseases. Transl Pediatr 2016;5(1):44-45. doi: 10.3978/j.issn.2224-4336.2015.12.07