WORLD Symposium 2009 (Lysosomal Disease Network's 5th Annual Research Meeting)

描述（由申请人提供）：2009年世界研讨会，溶酶体疾病网络（LDN）第五届年会将于2009年2月18日至20日在美国加利福尼亚州圣地亚哥举行。今年的专题讨论会是由国家海洋学研究所共同举办的。这次研究会议是一个多学科论坛，展示了溶酶体疾病的基础科学、转化研究和临床试验的最新信息。会议的主题是“从翻译到试验的过渡”，强调主要目的是评估将实验研究用于人类治疗的机制和障碍。在此基础上，进一步实现溶酶体疾病网络（LDN）的目标：1)进一步发展LDN的机制和使命；2)促进科学家之间的跨学科合作，提高对这些疾病的生化、免疫学、遗传学和临床表现的认识；3)识别和讨论诊断检测、筛查和治疗方面的最新发现；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。由于许多LDN研究者高度关注和/或治疗这些疾病的特定方面，他们很少接触到在他们当前感兴趣的领域之外的领域所做的工作。这次会议允许分享所有溶酶体疾病的知识和进展，并提供讨论治疗结果的机会。为了响应罕见疾病临床研究协会（RDCRC）的RFA，最近提交给NIH的多中心拨款证明了世界研讨会的协同性质。该研究项目包括18个独特的项目，代表14个机构。除临床医生和研究人员外，世界研讨会欢迎希望参加的患者，家长，护理人员和所有患者倡导者。这一独特的功能允许小的、地理上分散的患者群体获得有关溶酶体疾病最新科学进展的信息，并为科学家和临床医生提供了前所未有的在诊所外接触患者的机会，从而提供了一个论坛来分享否则不存在的信息。2009年世界研讨会计划将组织六个平台会议，两个海报会议和三个1小时的研究小组。今年的主题演讲将由Elizabeth Neufeld博士发表，她是溶酶体疾病研究的先驱。为了确保高质量的科学内容，并履行NIH参与计划的角色，Gary J. Murray博士（NINDS校外研究部神经遗传学项目主任）参加了计划委员会。每一届会议，计划委员会将选出两名特邀演讲者，并从提交的摘要中选择剩余的平台和会议后计划。公共卫生相关性：溶酶体病等罕见孤儿病的治疗相对较新，而且非常昂贵。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；对于这种缓慢进展的身体和神经疾病，创新治疗是必不可少的。世界专题讨论会汇集了研究人员、医生、患者和患者倡导者，以推进针对此类破坏性疾病的医学科学和公共政策。

DESCRIPTION (provided by applicant): WORLD Symposium 2009, the 5th annual meeting of the Lysosomal Disease Network (LDN) will be held February 18-20, 2009 in San Diego, CA, USA. This year, the Symposium is being co-organized by NINDS. This research meeting is a multidisciplinary forum presenting the latest information from basic science, translational research, and clinical trials for lysosomal diseases. The theme of the meeting "Transitions from Translation to Trials" emphasizes the primary aim which is to assess the mechanisms, and obstacles, for taking bench research into human therapy. Additional aims build upon this, and implement the goals of the Lysosomal Disease Network (LDN) to: 1) Further develop the mechanisms and mission of the LDN; 2) Foster interdisciplinary collaboration between scientists, leading to improved knowledge regarding the biochemical, immunologic, genetic, and clinical manifestations of these diseases; 3) Identify and discuss the latest findings in diagnostic testing, screening, and treatment; 4) Identify areas that need more basic/clinical research, public policy, and regulatory attention. Because many LDN investigators are highly focused and/or treat specific aspects of these diseases, they have little exposure to work done in areas outside their current area of interest. This meeting allows for the sharing of knowledge and advances for all lysosomal diseases, and provides an opportunity to discuss treatment outcomes. Proof of the synergistic nature of the WORLD Symposium is the multi-center grant recently submitted to the NIH in response to the Rare Diseases Clinical Research Consortia (RDCRC) RFA. That research program includes 18 unique projects, representing 14 institutions. In addition to clinicians and researchers the WORLD Symposium welcomes patients, parents, caregivers, and all patient advocates who wish to attend. This unique feature allows a small, geographically disperse patient population access to information on the latest scientific advances in lysosomal diseases and gives scientists and clinician's unprecedented access to patients outside the clinic setting thus providing a forum to share information that otherwise does not exist. The WORLD Symposium 2009 program will be organized in six platform sessions, two poster sessions, and three 1-hour research panels. This year's Keynote Address will be delivered by Dr. Elizabeth Neufeld, a pioneer in lysosomal disease research. To help ensure a high-quality scientific content, and fulfill the role of NIH involvement in planning, Gary J. Murray, Ph. D. (Program Director, Neurogenetics, Division of Extramural Research, NINDS) is participating on the Program Committee. For each session, the Program Committee has selected two Invited Speakers and selects the remainder of platform and poster-session program from submitted abstracts. PUBLIC HEALTH RELEVANCE: Treatments for rare, orphan diseases such as lysosomal diseases are relatively new and very expensive. Some life-long treatments can cost $200,000 - $1,800,000 per year for each individual. For others, there are no treatments; for such slowly progressive physical and neurologic disorders innovations in therapy are essential. The WORLD Symposium brings together researchers, physicians, patients and patient advocates to advance medical science and public policy for such devastating diseases.