17th Annual International Spinal Muscular Atrophy Research Group Meeting

描述（由申请人提供）：脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，可导致运动功能障碍和死亡。每6000个新生儿中就有一个受到影响，是两岁以下儿童的主要遗传杀手。这种疾病的分子基础是一种特定蛋白质-运动神经元存活（SMN）蛋白质的产生不足。运动神经元功能对SMN蛋白水平降低敏感，这种细胞缺陷导致这些患者四肢、颈部和胸部肌肉功能丧失。目前没有治疗SMA的方法。研究人员认为，它是最接近治疗的神经系统疾病之一，因为独特的备用基因SMN2的存在，提供了巨大的治疗可能性。SMA家族（FSMA）赞助国际SMA研究小组会议已有17年。2013年会议将于6月13日至6月16日在加利福尼亚州阿纳海姆的迪斯尼乐园酒店举行。它是目前全球最大的SMA年度研究会议，每年有200多名与会者。许多基础研究人员和临床医生参加了会议，近年来工业研究人员也越来越多地参加。这就允许了各种科学学科之间的相互影响。此外，会议与FSMA主办的SMA家庭会议同时举行，为研究人员提供了一个独特的机会，与他们致力于帮助的SMA患者互动。我们的总体会议目标是为来自世界各地的SMA专家提供一个论坛，分享未发表的数据，进行开放式交流，并促进合作。近年来，SMA出现了越来越多的药物管道，大约有十几个药物项目处于药物开发的不同阶段。科学家之间更多的交流应该会加快SMA研究的步伐，并加快FDA批准的治疗这种毁灭性疾病的方法。会议报告分为3个主要领域：临床研究，基础研究和转化研究。这使得来自不同科学学科的专家之间能够进行对话，这是治疗开发的关键。此外，2013年会议的一个主要焦点将是关于"增强SMA临床前药物研究的预测能力"的特别会议。随着SMA研究界开始更多地关注药物开发，制定进行临床前药物测试的最佳方式的战略至关重要，以便在未来的SMA药物试验中最大限度地提高人体疗效。最后，会议的一个重要次要目标是向SMA研究界介绍新的研究人员。这包括科学家的培训，这有助于建立SMA研究界的未来。它还包括致力于SMA的新生物技术和制药公司，这有助于他们更快地融入SMA社区。

DESCRIPTION (provided by applicant): Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease that leads to motor dysfunction and death. It affects one in 6000 babies born and is the leading genetic killer of children under two years of age. The molecular basis of the disease is a deficiency in production of a specific protein - Survival of Motor Neuron (SMN) protein. Motor neuron function is sensitive to lowered SMN protein levels, and this cellular defect leads to the loss of muscle function in the limbs, neck, and chest in these patients. Currently there is no treatment for SMA. Researchers have suggested that it is one of the neurological diseases closest to treatment, due to the unique presence of a back-up gene called SMN2, which provides great therapeutic possibility. Families of SMA (FSMA) has sponsored the International SMA Research Group Meeting for 17 years. In 2013 the conference will be held from June 13 to June 16 in Anaheim, CA at the Disneyland Hotel. It is currently the largest annual research conference for SMA worldwide with over 200 attendees each year. Numerous basic researchers and clinicians attend the conference, and in recent years industrial researchers have attended in growing numbers. This allows for cross talk among various scientific disciplines. Also, the meeting is held simultaneously with the FSMA-hosted SMA Family Conference, providing researchers a unique opportunity to interact with the SMA patients they are dedicated to helping. Our overall meeting goal is to provide a forum for SMA experts from around the world to share unpublished data, engage in open communication, and foster collaboration. In recent years, a growing drug pipeline has emerged for SMA with about a dozen drug programs in various stages of drug development. More communication among scientist should accelerate the pace of SMA research and hasten identification of an FDA-approved treatment for this devastating disease. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. This allows for dialogue among experts from distinct scientific disciplines, which is key to therapy development. In addition, a major focus of the 2013 meeting will be a special session on "Enhancing the Predictive Ability of Preclinical Drug Studies for SMA". As the SMA research community begins to focus more on drug development, it is critical to strategize on the best way to conduct preclinical drug testing in order to maximize the possibility of human efficacy in future SMA drug trials. Finally, an important secondary goal for the meeting is to introduce new researchers to the SMA research community. This includes scientists in training, which helps to build the future of the SMA research community. It also includes new biotech and pharmaceuticals companies working on SMA, which helps to integrate them more quickly into the SMA community.