WORLD Symposium 2010 (Lysosomal Disease Network's 6th Annual Research Meeting)

描述(申请人提供)：第六届年度世界研讨会将于2010年2月10日至12日在美国佛罗里达州迈阿密举行。今年，该研讨会连续第二年由NINDS联合举办。这次研究会议是一个多学科论坛，展示了基础科学、翻译研究和溶酶体疾病临床试验的最新信息。这次会议的主题是“从翻译到试验的转变”，会议的主要目的是评估将实验室研究带入人类疗法的机制和障碍。其他目标以此为基础，并实施溶酶体疾病网络(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了解；3)确定和讨论诊断检测、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成员调查和/或治疗这些疾病的具体方面，他们很少接触到在其当前感兴趣的领域以外的领域所做的工作。这次会议允许分享所有LD的知识和进展，并提供了讨论治疗结果的机会。世界研讨会协同性质的证据是NIH最近为响应罕见疾病临床研究联盟(RDCRC)RFA而资助的多中心赠款。RDCRC包括18个独特的项目，代表14个机构。除了临床医生和研究人员，世界研讨会欢迎患者、父母、护理者和所有希望参加的患者权益倡导者。这一独特的功能允许地理上分散的小患者群体获得关于LD最新科学进展的信息，并使科学家和临床医生前所未有地接触到临床环境之外的患者；提供了一个否则不存在的论坛。2010年世界研讨会计划将分为五个部分：第一部分和第二部分，基础科学；第三部分和第四部分，翻译研究；第五部分和第六部分，临床试验。此外，每天下午的会议将包括与调查人员的会议，他们的项目是RDCRC的一部分。每天，六名私人助理S将介绍他们特定项目的最新进展。此外，这些分组会议让每位研究人员有机会与其他人分享想法。今年的主旨演讲将由项目委员会选定的一名发言者发表，项目委员会是LD研究的先驱。对于每一次会议，项目委员会都会选出两名受邀的演讲者，并将从提交的摘要中填充项目的剩余部分(摘要提交截止日期为2009年10月1日)。 与公共卫生相关：罕见的孤儿疾病，如溶酶体疾病的治疗相对较新，而且非常昂贵。一些终身治疗的费用可能为每人每年20万至180万美元。对于其他人，没有治疗方法；对于这种进展缓慢的身体和神经疾病，创新治疗是必不可少的。世界研讨会将研究人员、医生、患者和患者权益倡导者聚集在一起，推动医学科学和公共政策，以应对这种毁灭性的疾病。

DESCRIPTION (provided by applicant): The 6th annual WORLD Symposium will be held February 10-12, 2010 in Miami, FL, USA. This year, for the second straight 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 (LD). 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 constituents investigate 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 LD, and provides an opportunity to discuss treatment outcomes. Proof of the synergistic nature of the WORLD Symposium is the multi-center grant recently funded by the NIH in response to the Rare Diseases Clinical Research Consortia (RDCRC) RFA. The RDCRC includes 18 unique projects, representing 14 institutions. In addition to clinicians and researchers the WORLD Symposium welcomes patients, parents, care-givers, and all patient advocates who wish to attend. This unique feature allows a small, geographically divergent patient population access to information on the latest scientific advances in LD and gives scientists and clinician's unprecedented access to patients outside the clinic setting; providing a forum that otherwise does not exist. The WORLD Symposium 2010 program will be organized in five sessions: Session I and II, Basic Science; Session III and IV, Translational Research; Session V and VI, Clinical Trials. Additionally, each afternoon session will include with a meeting of the Investigators who's projects are a part of the RDCRC. Each day, six P.I.'s will present updates on the progress being made on their particular project. Additionally, these breakout meetings give each investigator a chance to share ideas with the others. This year's Keynote Address will be delivered by a selected by the Program Committee, a pioneer in LD research. For each session, the Program Committee has selected two Invited Speakers and will fill the remainder of the program from submitted abstracts (abstract submission deadline October 01, 2009). 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.