Lysosomal Disease Network-8th Annual WORLD Symposium

描述(申请人提供)：第八届年度世界研讨会将于2012年2月8-10日(美国加利福尼亚州圣地亚哥)举行。这次研究会议是一个多学科论坛，介绍了基础科学、翻译研究和溶酶体疾病临床试验的最新进展。会议的组织主题将强调主要目标，即评估将长凳研究应用于人类疗法的机制和障碍。其他目标建立在此基础上，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，从而增进对这些疾病的生化、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 需要更多的基础/临床研究、公共政策和监管关注。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溶酶体疾病的知识和进展，并提供了讨论治疗结果的机会。多中心联盟“溶酶体疾病网络”(U54 NS065768，即罕见疾病临床研究网络(RDCRN)的成员)的产生证明了世界研讨会的协同性质。除了研究人员和临床医生，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。这一独特的功能允许地理上分散的小患者群体获得溶酶体疾病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；提供了一个分享原本不存在的信息的论坛。该计划分为六个部分，从“基础研究”到“转化性研究”再到“临床研究”。对于每个人，计划委员会将选出两名受邀的演讲者，并将填补 计划的其余部分来自提交的摘要(提交截止日期2011年10月1日)。研讨会将首次在研究会议前的星期二(2月7日)增加一节教学内容《溶酶体101，溶酶体生物学和疾病基础》。这个4小时的教育课程为所有与会者提供了生物化学、免疫学、分子生物学和溶酶体疾病遗传学的基本概念，从而为随后的前沿研究报告提供了共同的理解。此外，溶酶体101的设计部分是为了培养新/年轻研究人员对溶酶体生物学和代谢研究领域的发展的兴趣。为推进这一目标，今年我们将赞助年轻研究人员的旅行，便利他们参加《溶酶体101》和世界会议；指导新科学家是最不发达国家网络和区域发展研究网络的一项主要目标。 公共卫生相关性：相关性：罕见的孤儿疾病，如溶酶体疾病的治疗相对较新且非常昂贵。当治疗方法可用时，它们是终生的，每个人每年的费用可能是20万至180万美元；对于其他人，没有治疗。对于这种进展缓慢的身体和神经疾病，治疗的创新是必不可少的。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 8th annual WORLD Symposium will be held February 8-10, 2012 (San Diego, CA, USA). This research meeting is a multidisciplinary forum presenting the latest advances in basic science, translational research, and clinical trials for lysosomal diseases. The organizing theme of the meeting will emphasize 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 across all lysosomal diseases, and provides an opportunity to discuss treatment outcomes. Evidence of the synergistic nature of the WORLD Symposium has been outgrowth of the multi-center consortium "Lysosomal Disease Network" (U54 NS065768, i.e., a member of the Rare Diseases Clinical Research Network, RDCRN). In addition to researchers and clinicians, the WORLD Symposium welcomes patients, parents, caregivers, 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 lysosomal diseases and gives scientists and clinician's unprecedented access to patients outside the clinic setting; providing a forum to share information that otherwise does not exist. The program is organized in six sessions extending from "basic research" through "translational research" to "clinical research". For each, the Program Committee will select two Invited Speakers and will fill the remainder of the program from submitted abstracts (submission deadline October 1, 2011). For the first time, the Symposium will add a didactic component "Lysosomes 101, Fundamentals of Lysosomal Biology and Disease" on the Tuesday (February 7) preceding the research meeting. This 4-hour educational session offers all attendees the basic concepts of biochemistry, immunology, molecular biology, and genetics of lysosomal disease thus providing a common understanding for subsequent cutting edge research presentations. Also, Lysosomes 101 was designed, in part, to foster interest in lysosomal biology and growth the field of metabolic research among new/young investigators. To further that goal, this year we will be sponsoring travel for young investigators facilitating their attendance of "Lysosomes 101" and the WORLD conference; the mentoring of new scientists is a major goal of the LDN and the RDCRN. PUBLIC HEALTH RELEVANCE: Relevance: Treatments for rare, orphan diseases such as lysosomal diseases are relatively new and very expensive. When therapies are available they are life-long and 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.