New Research Strategies in Osteogenesis Imperfecta

描述(由申请人提供)：成骨不全(Ol)是一种临床和遗传上的异质性骨骼疾病。表型从围产期的致命到极其轻微的伴有罕见骨折的症状不等。 大多数受影响的人在两个I型胶原基因COL1A1和COL1A2中的任何一个有突变，但大约10%-15%的人可能有其他基因的突变，这些基因还没有被发现或表征。 “成骨不完美的新研究策略”将于2006年4月26日和27日在伊利诺伊州芝加哥举行。这次科学会议将聚集大约45名研究人员，分享当前OL研究的新科学数据，并确定未来研究工作的重点。同样重要的是，它将把参与链接临床研究中心(LCRC)项目的临床主任聚集在一起，LCRC项目是一个全国性的研究和治疗设施的合作网络，旨在增加研究机会并提高OL患者的护理标准。治疗数据的使用将是这次会议的一个具体焦点，特别是人们对OL治疗反应的差异。传统上，针对人群的治疗数据是以标准差等方法呈现的。这不能做的是对反应进行分层，并开始识别反应较差和反应“太好”的人。这种反应的异质性正变得越来越明显，世界各地的临床医生，特别是双膦酸类药物治疗的骨骼毒性已有报道。研究人员将从我们已知存在单一突变的家庭内变异、具有单一突变的家庭内变异以及对双膦酸盐、生长激素、棒状病毒和其他治疗的分层反应等因素方面讨论他们的数据。将组织会议，以便与会者在临床和协作问题以及研究数据之间分配他们的时间。第一天将专门讨论临床管理问题，将举行关于杆状手术、对涉及双磷酸盐和其他药物的治疗的反应、家庭内和家庭之间骨折修复的差异以及康复的会议。在第二天，参与者将在专门讨论病理生理学/细胞和骨生物学、新的Ol基因和变异决定因素、小鼠和其他动物模型以及未来策略的会议上重点讨论研究问题。

DESCRIPTION (provided by applicant): Osteogenesis imperfecta (Ol) is a clinically and genetically heterogeneous disorder of bone. The phenotypes range from lethal in the perinatal period to an extremely mild presentation with rare fractures. The majority of affected individuals have a mutation in either of the two type I collagen genes, COL1A1 and COL1A2, but about 10-15% likely have mutations in other genes, none of which have yet been identified or characterized. "New Research Strategies in Osteogenesis Imperfecta" will be held in Chicago, IL on April 26 and 27, 2006. This scientific meeting will bring together approximately 45 investigators to share new scientific data from current Ol research and shape the focus of future research efforts. Just as importantly, it will bring together the clinical directors involved in the Linked Clinical Research Centers (LCRC) project, a cooperative network of research and treatment facilities nationwide designed to increase research opportunities and improve the standard of care for people with Ol. The use of treatment data will be a specific focus of this meeting, particularly the variation between people in their response to Ol treatments. Traditionally, treatment data are presented for populations as means with standard deviation, etc. What this does not do is stratify response and begin to identify people who respond less well and those who respond "too well". Such response heterogeneity is becoming evident to clinicians worldwide, and skeletal toxicity from especially bisphosphonate treatment has been reported. Researchers will discuss their data in terms of factors like intrafamilial variation where we know there is a single mutation, the intrafamilial variation with single mutations, and the stratification of response to bisphosphonates, growth hormone, rodding, and other treatments. Conference sessions will be organized so that participants divide their time between clinical and collaborative issues and research data. The first day will be dedicated to Clinical Management Issues, with sessions to be held on rodding surgery, response to therapies involving bisphosphonates and other drugs, variation in fracture repair in and between families, and rehabilitation. During the second day, participants will focus on research issues during sessions devoted to pathophysiology/cell and bone biology, New Ol genes and determinants of variation, mouse and other animal models, and future strategies.