2011 Lysosomal Disease Gordon Research Conference

描述（由申请人提供）：这个关于溶酶体疾病的戈登研究会议（GRC）的首次会议定于2011年1月举行，是由GRC组织的170多个年度会议中最新的一个，该组织因其会议的高质量，前沿性而闻名世界。这个新的溶酶体疾病会议是从长期和非常成功的溶酶体和内吞GRC发展而来的，多年来，它主要集中在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谱蛋白质缺陷引起的50多种疾病，其中许多仍然知之甚少，并且所有这些疾病都以关键方式损害溶酶体系统的功能并导致受影响个体的严重疾病和死亡。因此，本次会议为解决涉及溶酶体疾病的主要挑战提供了一个重要的新场所，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）导致一些最难治疗的溶酶体疾病的非酶，神秘蛋白质的特定功能（NPC 1和NPC 2，CLN 3，TRPML 1，其他）和（3）特异性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，我们的目标是邀请40多位在溶酶体疾病领域工作的国际知名科学家和临床医生与另外大约100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，他们正处于职业生涯的开始阶段。由此产生的讨论和思想和方法的交叉受精，我们相信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。基于大量的支持电子邮件，我们已经收到了来自地球仪，因为这个新的会议由GRC宣布，我们完全相信，这次会议将满足一个真正的溶酶体疾病领域的学术论坛真实的未满足的需求。重要性：溶酶体疾病，虽然个别罕见，共同表现出1：5000至7000活产的发病率，使他们作为一个群体的遗传性疾病的更常见的家庭之一。然而，学术会议集中在分子和细胞的发病机制和治疗这些疾病作为一个群体是罕见的最好的。我们预计，在这个新的GRC参与者之间的科学讨论，研究报告和非正式的互动将大大有助于推进我们对这些重要的和未充分研究的疾病的理解，也将为创新的新疗法的发展奠定基础。此外，这次会议还将促进所有重要的下一代科学家和临床医生专注于这些疾病的发展。 公共卫生相关性：关于溶酶体疾病的戈登研究会议将汇集对溶酶体疾病的理解和治疗做出贡献的主要领导人，包括参与基础科学学科（遗传学，生物化学，细胞生物学，病理学，动物疾病模型的开发和表征等）的领导人。以及临床科学（儿科遗传学家和神经学家，临床试验设计师等）沿着的还有研究生和初级研究人员，他们代表了对溶酶体疾病感兴趣的未来一代研究人员。本次会议期间的科学报告，讨论和研讨会将大大有助于促进我们对溶酶体疾病发病机制的理解，包括大脑和其他器官/系统，以及发展自然史研究和生物标志物发现，以及新的和创新的治疗策略。重要的是，我们相信，GRC的合议和合作气氛，以及思想和方法的分享，科学家和临床医生之间的交叉受精能力，致力于不同的溶酶体疾病与共同的挑战，将为推进理解和治疗溶酶体疾病提供一个基础，其方式是其他会议无可比拟的。

DESCRIPTION (provided by applicant): This Gordon Research Conference (GRC) on Lysosomal Disease, with its inaugural meeting scheduled for January, 2011, is one of the newest of over 170 annual conferences organized by the GRC, an organization known world-wide because of the high-quality, cutting-edge nature of its conferences. This new Lysosomal Disease meeting has evolved from the longstanding and highly successful Lysosomes and Endocytosis GRC, which for many years now 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 defects in a wide spectrum of proteins, many of which remain poorly understood, and all of which compromise the function of the lysosomal system in critical ways and lead to serious illness and death of affected individuals. This meeting thus offers a critical new venue for addressing the major challenges involving lysosomal diseases, including the need for better understanding of (1) pathogenic mechanisms underlying dysfunction of neurons and brain, as well as other cell types/ organs/systems, (2) specific functions of non-enzymatic, enigmatic proteins causing some of the most difficult to treat lysosomal disorders (NPC1 and NPC2, CLN3, TRPML1, others) 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 our goal is to invite 40+ leading internationally known scientists and clinicians working in the field of lysosomal disease to join with approximately another 100 attendees, fully one-third of whom we anticipate will be junior investigators, postdoctoral fellows and graduate students who are at the beginning stages of their careers. The resulting discussion and cross fertilization of ideas and approaches 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. Based on the large number of supporting emails that we have received from across the globe since the announcement of this new meeting by the GRC, we fully believe that this conference is going to meet a real unmet need for a genuine academic forum for the Lysosomal Disease field. Significance: Lysosomal diseases, while individually rare, together exhibit an incidence of 1:5000 to 7000 live births, making them as a group one of the more common families of genetic disorders. Yet academic meetings focused on the molecular and cellular pathogenesis and treatment of these diseases as a group is uncommon at best. We anticipate that the scientific discussions, research presentations and informal interactions between the participants in this new GRC will significantly contribute to advancing our understanding of these important and understudied disorders, and will also set the stage for development of innovative new therapies. This meeting, furthermore, will also foster the development of the all important next generation of scientists and clinicians focused on these disorders. PUBLIC HEALTH RELEVANCE: The Gordon Research Conference on Lysosomal Disease will bring together major leaders who are contributing to the understanding and treatment of lysosomal diseases, including those involved in basic science disciplines (genetics, biochemistry, cell biology, pathology, development and characterization of animal disease models etc.) as well as in the clinical sciences (pediatric geneticists and neurologists, clinical trial designers, etc.) along with graduate students and junior investigators who represent the future generation of researchers with interest in Lysosomal Disease. The scientific presentations, discussions and workshops during this conference will significantly contribute to advancing our understanding of the pathogenesis of lysosomal diseases, in terms of brain and other organs/systems, and to developing natural history studies and biomarker discovery, as well as new and innovative therapeutic strategies. Importantly, we are confident that the collegial and cooperative atmosphere of the GRC and the sharing of ideas and approaches, the capacity for cross fertilization between scientists and clinicians working on different lysosomal diseases with common challenges, will provide a basis for advancement of understanding and treating Lysosomal Disease in a manner unparalleled by other meetings.