2013 Lysosomal Disease Gordon Research Conference and Gordon Research Seminar

描述（由申请人提供）：继2011年在德克萨斯州加尔维斯顿的Galvez酒店举行的非常成功的首次会议之后，关于溶酶体疾病的戈登研究会议（GRC）的第二次会议将于2013年4月在意大利卢卡（巴尔加）的文艺复兴托斯卡纳Il Ciocco度假村举行。溶酶体疾病GRC是由GRC组织的170多个年度会议中最新的一个，GRC是一个以其高质量，尖端的学术会议而闻名的组织。溶酶体疾病GRC从长期和非常成功的溶酶体和内吞作用GRC演变而来，多年来主要关注细胞内运输和内吞机制的新兴领域，而不是溶酶体功能/疾病。然而，溶酶体疾病代表了一组由广泛的蛋白质遗传缺陷引起的50多种疾病，其中许多仍然知之甚少。这些疾病影响许多器官系统，最明显的是大脑，导致慢性疾病和受影响个体的死亡。溶酶体疾病GRC为解决涉及溶酶体疾病的主要挑战提供了一个关键场所，包括需要更好地理解（1）神经元和大脑以及其他细胞类型/器官/系统功能障碍的致病机制，（2）非酶，神秘蛋白质的特定功能（NPC 1和NPC 2，CLN 3，TRPML 1，其他）引起一些最难治疗的溶酶体疾病和（3）特定溶酶体疾病和其他慢性神经变性病症（例如，C型尼曼-匹克氏病和阿尔茨海默氏病、高雪氏病和帕金森氏病，等等）。此外，还存在开发（4）针对这些疾病的新的和创新的疗法以及（5）适当的生物标志物鉴定和验证的挑战，随后是（6）有效的临床试验开发。为了解决这些重要问题，我们邀请了41位在溶酶体疾病领域工作的领先的国际知名科学家和临床医生与另外大约160名与会者一起参加，我们预计其中三分之一将是初级研究人员，博士后研究员和研究生谁是在他们的职业生涯的早期阶段。重要的是，2011年会议的成功导致GRC组织选择溶酶体疾病会议作为戈登研究研讨会（GRS）的主办方，这是一个由研究生和早期博士后研究员组织和运行的特别会议。GRS的存在确保了下一代溶酶体疾病研究人员中最优秀和最聪明的人也将成为GRC的一部分。作为GRC和GRS会议的一部分，我们相信讨论和交叉施肥的想法和方法不仅会加速我们对溶酶体系统在健康和疾病中的作用的理解，而且会使我们更接近许多这些疾病的有效疗法。

DESCRIPTION (provided by applicant): Following from its highly successful inaugural meeting at the Hotel Galvez in Galveston, Texas, in 2011, this second meeting of the Gordon Research Conference (GRC) on Lysosomal Disease will take place at the Renaissance Tuscany Il Ciocco Resort in Lucca (Barga), Italy in April, 2013. The Lysosomal Disease GRC is one of the newest of over 170 annual conferences organized by the GRC, an organization known world-wide for its high-quality, cutting-edge academic conferences. The Lysosomal Disease GRC evolved from the longstanding and highly successful Lysosomes and Endocytosis GRC, which for many years has focused principally on the burgeoning field of intracellular trafficking and endocytic mechanisms, rather than lysosomal function/disease. Yet Lysosomal Disease represents a group of more than 50 disorders caused by inherited defects in a wide spectrum of proteins, many of which remain poorly understood. These disorders affect many organ systems, most notably brain, leading to chronic illness and death of affected individuals. The Lysosomal Disease GRC offers a critical venue for addressing the major challenges involving lysosomal diseases, including the need for better understanding of (1) pathogenic mechanisms underlying the dysfunction of neurons and brain, as well as other cell types/organs/systems, (2) specific functions of non-enzymatic, enigmatic proteins (NPC1 and NPC2, CLN3, TRPML1, others) causing some of the most difficult to treat lysosomal disorders and (3) the relationship between specific lysosomal diseases and other chronic neurodegenerative conditions (e.g., Niemann-Pick type C and Alzheimer's, Gaucher and Parkinson's, and so forth). Additionally there is the challenge to develop (4) new and innovative therapies for these disorders coupled with (5) appropriate biomarker identification and validation, with this followed by (6) effective clinical trial development. To address these important topics we have invited 41 leading and internationally known scientists and clinicians working in the field of lysosomal disease to join with approximately another 160 attendees, fully one-third of whom we anticipate will be junior investigators, postdoctoral fellows and graduate students who are at the early stages of their careers. Importantly, the success of the 2011 meeting led to the GRC Organization selecting the Lysosomal Disease meeting as a host for a Gordon Research Seminar (GRS), a special meeting organized and run by graduate students and early postdoctoral fellows. The presence of the GRS insures that the best and the brightest of the next generation of lysosomal disease researchers will be part of the GRC as well. The discussion and cross fertilization of ideas and approaches occurring as part of the GRC and GRS meetings we believe will accelerate not only our understanding of the role of the lysosomal system in health and in disease, but also move us closer to effective therapies for many of these disorders.