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

描述(申请人提供)：2009年世界学术研讨会，溶酶体疾病网络(LDN)第五届年会将于2009年2月18-20日在美国加利福尼亚州圣地亚哥举行。今年，研讨会由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调查人员高度关注和/或治疗这些疾病的特定方面，他们很少接触到他们当前感兴趣领域以外的工作。这次会议允许分享所有溶酶体疾病的知识和进展，并提供了讨论治疗结果的机会。世界研讨会的协同性质的证据是最近为响应罕见疾病临床研究联盟(RDCRC)RFA而向NIH提交的多中心拨款。该研究项目包括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、照顾者和所有希望参加的患者权益倡导者。这一独特的功能使地理上分散的一小部分患者能够获得有关溶酶体疾病最新科学进展的信息，并使科学家和临床医生能够前所未有地接触到临床环境之外的患者，从而提供了一个分享原本不存在的信息的论坛。2009年世界研讨会计划将由六个平台会议、两个海报会议和三个1小时的研究小组组成。今年的主旨演讲将由溶酶体疾病研究的先驱伊丽莎白·纽菲尔德博士发表。为了帮助确保高质量的科学内容，并履行NIH参与规划的角色，加里·J·默里博士(NINDS校外研究部神经遗传学项目主任)参加了项目委员会。对于每一次会议，方案委员会挑选了两位受邀的演讲者，并从提交的摘要中选出平台和海报会议方案的其余部分。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): 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.