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AME专访|David Sillence:遗传学并不能简单等同于未知疾病

Published at: 2015年第1卷第S1期

王嘉慧
关键词:

编者按:第 11 届亚太人类遗传学大会(APCHG 2015)于 9 月 16-18 日在越南河内顺利召开。本届大会以“Genetics and Genomics: The Path to Translational Medicine”为主题,旨在为参会人员提供一个讨论人类遗传学进展的平台。本次大会上,400 份 AME 旗下 Annals of Translational Medicine(简称 ATM)杂志会议专辑,800 份 Translational Pediatrics(简称 TP)杂志两期特刊宣传页被放入会议资料包,送达到 400 余位参会人员的手中。小编也很荣幸邀请到来自 Children’s Hospital at Westmead 的 David Sillence 教授接受我们的专访,讲述他对遗传学以及亚洲遗传学的发展的个人看法。作为成骨不全症领域的专家,Sillence 教授同时与我们分享了该领域的最新进展。

采访问题

  1. 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?

  2. 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?

  3. Your team pioneered the systematic treatment of Brittle Bone Syndromes in children in Australia. Is there any promising treatment for this disease?

  4. Could you have a comment on the current development of Genetics in Asia?

  5. 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?

 

受访专家|Prof. David Sillence, 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.

 

采访编辑|王嘉慧,科学编辑,AME出版社。

视频剪辑|麦雪芳,视频编辑,AME出版社。

点击链接,查看AME旗下 Translational Pediatrics 杂志“Studieson Genetic Diseases for better therapies in Pediatrics”特刊。http://www.thetp.org/issue/view/297

doi:

10.3978/kysj.2014.1.1228
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