Mechanistic and Therapeutic Insights into Skeletal Biology Learned from the Study

描述（由申请人提供）：骨骼健康对整体健康和生活质量至关重要；骨骼系统提供身体的流动性，支持和保护，并作为必需矿物质的主要储存库。但不是每个人都享有良好的骨骼健康。迄今为止，已描述了近500种独特的罕见骨病，总共影响5,000个活产婴儿中的1个，占所有出生缺陷的5%。这些疾病造成的残疾通常会影响个人的一生。目前，这些疾病中的绝大多数都无法治愈，然而研究罕见的骨病有助于阐明生物学途径并揭示有价值的药物发现靶点，这些靶点也有利于普通骨病患者。这项拨款申请要求部分支持“从罕见骨病研究中了解骨骼生物学的机制和治疗见解”，这是一个由国家骨健康联盟（NBHA）与罕见骨病患者网络合作协调的研讨会，并得到美国骨与矿物研究协会（ASBMR）和美国骨与关节倡议（USBJI）的支持。研讨会的具体目标是：1)召集包括研究人员，临床医生和罕见骨病患者在内的多学科专家小组，以促进我们对骨骼生物学的理解，并鼓励开发新的治疗方法，以改善患有常见和罕见骨病的个体的预后；2)确定我们在罕见骨疾病的生物学机制方面的知识差距，并在转化和治疗领域分享有效的研究策略；3)鼓励广泛参与，在ASBMR 2014年年会的前一天举办活动，并为大量年轻研究者提供参会资金；4)通过在同行评议的期刊上发表该项目的论文集，广泛传播研究结果。为期一天的研讨会将于2014年9月11日在德克萨斯州休斯顿举行，即ASBMR 2014年年会的前一天，ASBMR 2014年年会是骨和矿物质研究领域学术和临床领导者的首要聚会。这种配对将鼓励尽可能多的科学家、临床医生和年轻研究人员参加研讨会。该研讨会将包括邀请演讲者的演讲，以及发起合作和鼓励未来研究伙伴关系的多种机会。规划委员会已得到确认，并将确保包括妇女、残疾人和来自代表性不足群体的参与者。

DESCRIPTION (provided by applicant): Bone health is critical to overall health and quality of life; the skeletal system provides the body mobility, support and protection, and serves as a major reservoir for essential minerals. But not everyone enjoys good bone health. To date, nearly 500 unique rare bone diseases have been described, which in the aggregate affect 1 in 5,000 live births, and comprise 5% of all birth defects. Typically the disability caused by these diseases affects individuals throughout their lives. Currently, the vast majority of these disorder have no cure, yet studying rare bone diseases has helped elucidate biological pathways and reveal valuable targets for drug discovery that are benefitting patients with common bone diseases too. This grant application requests partial support for "Mechanistic and Therapeutic Insights into Skeletal Biology Learned from the Study of Rare Bone Diseases," a workshop being coordinated by the National Bone Health Alliance (NBHA) in partnership with the Rare Bone Disease Patient Network and with the support of the American Society for Bone and Mineral Research (ASBMR) and the United States Bone and Joint Initiative (USBJI). The specific aims of the workshop are to: 1) Convene a multi-disciplinary group of experts including researchers, clinicians, and patients with rare bone diseases to advance our understanding of skeletal biology and encourage the development of novel therapies to improve outcomes for individuals with both common and rare bone diseases; 2) Identify gaps in our knowledge regarding the biologic mechanisms underlying rare bone disorders and share effective research strategies in translational and therapeutic areas; 3) Encourage broad participation both by holding the event the day before the ASBMR 2014 Annual Meeting and providing funding for a significant number of young investigators to attend; and 4) Disseminate the results broadly by publishing the proceedings of the program in a peer-reviewed journal. The one-day workshop will be held on September 11, 2014 in Houston, Texas, the day before the ASBMR 2014 Annual Meeting, the premier gathering of academic and clinical leaders in bone and mineral research. This pairing will encourage the greatest number of scientists, clinicians, and young investigators to participate in the workshop. The workshop will include lectures by invited speakers, and multiple opportunities to initiate collaborations and encourage future research partnerships. The planning committee has been confirmed and will ensure inclusion of women, individuals with disabilities, and participants from underrepresented groups.