Lysosomal Disease Network-4th Annual WORLD Symposium

描述(申请人提供)：第四届年度世界研讨会将于2008年2月13-15日在美国内华达州拉斯维加斯举行。除了溶酶体疾病网络(LDN)的年度会议外，研讨会还将提供一个多学科论坛，介绍和讨论临床研究，以促进对这些疾病的分子生物学、病理学和治疗潜力的新理解。具体目标是：1)进一步将LDN成员整合为一个功能研究网络；2)促进跨学科合作，总体目标是增进对这些疾病的基本发现和临床表现的了解；3)确定和讨论溶酶体病(LDS)自然史、诊断检测和筛查以及治疗方面的最新发现；以及4)确定需要更多基础/临床研究、公共政策和监管关注的领域。该网络的许多成员调查和/或治疗这些疾病的具体方面，但很少接触到他们目前感兴趣的领域以外的领域所做的工作。这一会议平台促进了所有LDS的基础和临床科学进展的分享，并提供了一个讨论相关治疗结果问题的机会。由于患者分散在广泛的地理区域，因此LDS的研究和治疗构成了独特的挑战。提供一个共享基础和临床科学信息的论坛将促进这两个领域的研究，并导致更有效和高效地传播知识、临床指南和诊断、评估和治疗建议。2008年世界专题讨论会方案将分五次举行。第一讲：基础科学，了解溶酶体病病理生理学的进展。第二节：基础科学，溶酶体疾病治疗的未来治疗方法。第三节：翻译研究，走向溶酶体疾病临床试验的创新疗法。第四节：临床试验，目前正在测试的实验疗法。第五节：自然病史、治疗结果和生活质量问题。在最后一天下午(患者、家长和患者权益倡导者特别感兴趣的)额外的并发疾病特定会议将包括教育演示、支持服务和圆桌讨论。为了帮助确保高质量的科学内容，并满足NIH参与的R13要求，Danilo Tagle博士(NINDS)已同意参加计划委员会。此外，正在招聘NIH的内部和行政人员，以补充LDN指导委员会的成员，这些成员因此构成了计划委员会。对于每一次会议，计划委员会将选出两名受邀的演讲者，并从提交的摘要中填写节目的剩余部分(摘要提交截止日期为2008年6月1日；计划最终定稿为2008年7月1日)。与公共卫生相关：针对罕见的“孤儿”溶酶体疾病开发了新的昂贵的治疗方法，一些终生治疗费用为每人每年20万至180万美元。对于其他人来说，没有治疗方法；这种缓慢进展的身体和神经疾病迫切需要治疗创新。世界研讨会汇集了研究人员、医生和患者权益倡导者，以推动医学科学和公共政策，以解决这些紧迫的问题。

DESCRIPTION (provided by applicant): The 4th annual WORLD Symposium will be held February 13-15, 2008 in Las Vegas, NV, USA. In addition to the annual meeting of the Lysosomal Disease Network (LDN), the symposium will provide a multidisciplinary forum to present and discuss clinical research to foster new understanding of the molecular biology, pathology, and potential for treatment for these diseases. Specific aims are to: 1) Further coalesce members of the LDN as a functional research network, 2) Foster interdisciplinary collaboration with the overall goal of improving knowledge of basic discoveries and clinical manifestations of these diseases; 3) Identify and discuss the latest findings in the natural history of lysosomal diseases (LDs), diagnostic testing and screening, and treatment; and 4) Identify areas requiring additional basic/clinical research, public policy and regulatory attention. Many of the network's constituents investigate and/or treat specific aspects of these diseases but have little exposure to work done in areas outside their current area of interest. This meeting platform promotes the sharing of basic and clinical science advances for all LDs, and provides an opportunity to discuss the related treatment outcome issues. The study and treatment of LDs pose unique challenges due to small populations of patients being dispersed over a wide geographic area. Providing a forum to share information in the basic and clinical sciences will advance research in both realms, and result in a more effective and efficient dissemination of knowledge, clinical guidelines, and recommendations for diagnosis, evaluation, and treatment. The 2008 WORLD Symposium program will be organized in five sessions. Session I: Basic Science, Advances in Understanding the Pathophysiology of Lysosomal Diseases. Session II: Basic Science, Future Therapeutic Approaches to Treatment of Lysosomal Diseases. Session III: Translational Research, Innovative Therapies Moving Toward Clinical Trials for Lysosomal Diseases. Session IV: Clinical Trials, Experimental Therapies Currently Being Tested. Session V: Natural History, Treatment Outcomes, and Quality of Life Issues. Additional concurrent disease-specific sessions on the afternoon of the last day (of special interest to patients, parents, and patient advocates) will include educational presentations, support services, and round table discussions. To help ensure a high-quality scientific content, and fulfill the R13 requirement for NIH involvement, Dr. Danilo Tagle (NINDS) has agreed to participate on the Program Committee. Additional, intramural and administrative NIH personnel are being recruited to supplement LDN Steering Committee members who thus constitute the Program Committee. For each session, the Program Committee will select two Invited Speakers and fill the remainder of the program from submitted abstracts (abstract submission deadline June 1, 2008; program finalized July 1, 2008). PUBLIC HEALTH RELEVANCE: New, expensive treatments are developed for the rare, "orphan" lysosomal diseases, some life-long treatments costing $200,000 - $1,800,000 per year for each individual. For others, there are no treatments; such slowly progressive physical and neurologic disorders cry out for innovations in therapy. The WORLD Symposium brings together researchers, physicians and patient advocates to advance medical science and public policy for such desperate problems.