17th Annual International Spinal Muscular Atrophy Research Group Meeting

描述(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，会导致运动功能障碍和死亡。它影响6000名新生儿中的一名，是两岁以下儿童的头号基因杀手。这种疾病的分子基础是缺乏一种特定的蛋白质-运动神经元存活(SMN)蛋白的产生。运动神经元功能对SMN蛋白水平降低很敏感，这种细胞缺陷会导致这些患者四肢、颈部和胸部肌肉功能的丧失。目前还没有治疗SMA的方法。研究人员认为，这是最接近治疗的神经系统疾病之一，因为存在一种名为SMN2的独特备份基因，它提供了巨大的治疗可能性。SMA家庭(FSMA)赞助国际SMA研究小组会议已有17个年头。2013年大会将于6月13日至6月16日在加利福尼亚州阿纳海姆迪士尼乐园酒店举行。它目前是SMA在全球范围内最大的年度研究会议，每年有超过200人参加。众多的基础研究人员和临床医生参加了会议，近年来，工业研究人员参加的人数也越来越多。这允许不同科学学科之间的相互作用。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与他们致力于帮助的SMA患者互动的独特机会。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，分享未公布的数据，进行开放的交流，并促进合作。近年来，SMA出现了越来越多的药物管道，在药物开发的不同阶段有大约12个药物计划。科学家之间的更多交流应该会加快SMA研究的步伐，并加速确定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。这允许来自不同科学学科的专家之间的对话，这是治疗发展的关键。此外，2013年会议的一个主要焦点将是关于“提高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法的战略至关重要，以便在未来的SMA药物试验中最大限度地提高人类疗效的可能性。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。这包括正在接受培训的科学家，这有助于建立SMA研究界的未来。它还包括致力于SMA的新的生物技术和制药公司，这有助于它们更快地融入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.