Lysosomal Disease Network-4th Annual WORLD Symposium

第四届世界研讨会将于2008年2月13日至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，研讨会将提供一个多学科论坛来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认识。具体目标是：1)进一步整合LDN成员作为一个功能研究网络；2)促进跨学科合作，以提高对这些疾病的基本发现和临床表现的认识；3)识别和讨论溶酶体疾病（LDs）的自然史、诊断检测和筛查以及治疗方面的最新发现；4)确定需要额外基础/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/或治疗这些疾病的特定方面，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。这个会议平台促进了所有lld的基础和临床科学进展的共享，并提供了一个讨论相关治疗结果问题的机会。由于小群体患者分散在广泛的地理区域，ld的研究和治疗面临着独特的挑战。提供一个论坛来分享基础科学和临床科学方面的信息，将促进这两个领域的研究，并使知识、临床指南和诊断、评估和治疗建议的传播更加有效和高效。2008年世界研讨会计划将分为五次会议。第一部分：基础科学，溶酶体疾病病理生理学的研究进展。第二部分：基础科学，未来治疗溶酶体疾病的方法。第三部分：溶酶体疾病的转化研究、创新疗法走向临床试验。第四部分：临床试验，目前正在测试的实验性疗法。第五部分：自然史、治疗结果和生活质量问题。在最后一天的下午，额外的针对特定疾病的会议（对患者、家长和患者倡导者特别感兴趣）将包括教育演讲、支持服务和圆桌讨论。为了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，正在招募NIH内部和行政人员，以补充LDN指导委员会成员，从而组成计划委员会。每一届会议，项目委员会将选出两名受邀演讲者，并从提交的摘要中填写剩余的项目（摘要提交截止日期为2008年6月1日；项目最终确定日期为2008年7月1日）。公共卫生相关性：为罕见的“孤儿”溶酶体疾病开发了新的昂贵的治疗方法，一些终身治疗的费用为每人每年20万至180万美元。对其他人来说，没有治疗方法；这种缓慢发展的身体和神经疾病迫切需要创新的治疗方法。世界专题讨论会汇集了研究人员、医生和患者倡导者，以推进针对此类令人绝望问题的医学科学和公共政策。

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.