2011 Lysosomal Disease Gordon Research Conference

描述(由申请人提供)：本次戈登溶酶体病研究会议(GRC)的首届会议定于2011年1月举行，是GRC组织的170多个年度会议中最新的一个，GRC是一个因其会议的高质量和尖端性质而闻名世界的组织。这次新的溶酶体疾病会议是从长期且非常成功的溶酶体和内吞GRC演变而来的，GRC多年来主要专注于新兴的细胞内运输和内吞机制领域，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蛋白质谱缺陷引起的50多种疾病，其中许多仍然知之甚少，所有这些疾病都以关键的方式损害了溶酶体系统的功能，并导致受影响个人的重病和死亡。因此，这次会议为解决与溶酶体疾病有关的重大挑战提供了一个重要的新场所，包括需要更好地了解(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病(NPC1和NPC2、CLN3、TRPML1等)的非酶、神秘蛋白质的特定功能，以及(3)特定溶酶体疾病与其他慢性神经退行性疾病(例如，Niemann-Pick C型与阿尔茨海默氏症、Gaucher和帕金森氏症等)之间的关系。此外，还有一个挑战是开发(4)针对这些疾病的新的和创新的疗法，以及(5)适当的生物标记物识别和验证，以及(6)有效的临床试验开发。为了解决这些重要的主题，我们的目标是邀请40+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100名与会者一起参加，我们预计其中整整三分之一将是初级研究员、博士后研究员和处于职业生涯初期的研究生。我们相信，由此产生的想法和方法的讨论和交叉融合不仅将加速我们对溶酶体系统在健康和疾病中的作用的理解，而且还将使我们更接近于有效地治疗许多此类疾病。自GRC宣布这一新会议以来，我们收到了来自全球各地的大量支持电子邮件，基于此，我们完全相信，这次会议将满足对溶体病领域真正的学术论坛的真正未得到满足的需求。意义：溶酶体疾病虽然个别罕见，但合并显示1：5000至7000活产儿的发病率，使它们作为一个群体成为更常见的遗传性疾病家族之一。然而，专注于这些疾病的分子和细胞发病机制以及作为一个群体的治疗的学术会议充其量是不常见的。我们预计，这一新的GRC参与者之间的科学讨论、研究陈述和非正式互动将极大地促进我们对这些重要的和未被研究的疾病的了解，并将为创新新疗法的开发奠定基础。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的发展，这些科学家和临床医生专注于这些疾病。 与公共卫生相关：戈登溶酶体病研究会议将汇聚对了解和治疗溶酶体病做出贡献的主要领导人，包括那些涉及基础科学学科(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)的人。以及临床科学(儿科遗传学家和神经学家、临床试验设计者等)。以及研究生和初级研究员，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陈述、讨论和研讨会将大大有助于从脑和其他器官/系统的角度增进我们对溶酶体疾病发病机制的理解，并有助于发展自然历史研究和生物标记物的发现，以及新的和创新的治疗策略。重要的是，我们相信，GRC的合作和合作氛围以及想法和方法的共享，以及科学家和临床医生之间在面临共同挑战的不同溶酶体疾病方面的交叉受精能力，将为以其他会议无法比拟的方式促进对溶酶体疾病的理解和治疗提供基础。

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.