14th 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名新生儿中就有1名患有这种疾病，是两岁以下儿童的主要遗传杀手。这种疾病的分子基础是缺乏一种特定蛋白质的生产-运动神经元存活（SMN）蛋白。运动神经元功能对SMN蛋白水平降低很敏感，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。目前还没有治疗SMA的方法，尽管研究人员认为它是最接近治疗的神经系统疾病之一。这是由于一种名为SMN2的备用基因的独特存在，提供了很大的翻译可能性。在过去的13年里，脊髓性肌萎缩症协会（FSMA）赞助了年度国际SMA小组会议，这是唯一一个完全致力于SMA研究的公开会议。2010年会议将于6月24日至26日在加州圣克拉拉的圣克拉拉万豪酒店举行。自成立以来，该会议的与会者已从40人增加到2009年的近250人。这是目前全球规模最大的SMA研究会议。该会议与FSMA家庭与专业会议同时举行，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。在FSMA，我们相信，汇集来自世界各地的领先SMA研究专家，分享未发表的数据，进行公开交流，促进合作，将大大加快SMA研究的步伐，从而找到治疗这一毁灭性疾病的方法。因此，我们研究会议的总体目标是在研究过程的早期阶段提供一个论坛，用于交换新的和未发表的数据，以影响富有成效的合作。为了实现这一目标，FSMA组织了一次100%开放的会议，欢迎来自世界各地的科学家参加。作为唯一一个致力于SMA的公开会议，它是整个SMA社区可以每年共享数据和信息的场所。同样为了实现有意义的交流，参与者被特别指示只展示新的、未发表的数据。会议报告分为三个主要领域：临床研究、基础研究和转化研究。2010年，大会将举办一个新的特别会议，重点讨论将SMA候选疗法从实验室发现转化为FDA的研究新药（IND）申请。会议的第二个目标是将新的研究人员引入SMA社区，包括那些位于国际上的研究人员。这是唯一一个以SMA为重点的会议，鼓励博士后研究员和研究生参加/演讲，而不仅仅是PI参与。这是会议的一个重要方面，因为它有助于建立SMA研究界的未来。

DESCRIPTION (provided by applicant): Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease that leads to motor dysfunction and death. It affects one of 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, although researchers have suggested that it is one of the neurological diseases closest to a treatment. This is due to the unique presence of a back-up gene called SMN2, providing great translational possibility. For the past 13 years, Families of Spinal Muscular Atrophy (FSMA) has sponsored the Annual International SMA Group Meeting, the only open conference entirely dedicated to SMA research. In 2010 the conference will be held June 24 - 26in the Santa Clara Marriott in Santa Clara, California. Since its inception, the meeting has grown from 40 attendees to almost 250 in 2009. It is currently the largest research conference for SMA worldwide. The conference is held simultaneously with the FSMA Families & Professional Conference, providing researchers a unique opportunity to interact with the SMA patients they are dedicated to helping. At FSMA we believe that bringing together the leading SMA research experts from around the world to share unpublished data, engage in open communication, and foster collaboration will greatly enhance the pace of SMA research, leading to a treatment for this devastating disease. Thus, the overall goal for our research meeting is providing a forum for the exchange of new and unpublished data at an early point in the research process to impact productive collaboration. To achieve this, FSMA has organized the conference to be 100% open with scientists from across the world welcome to attend. As the only open conference dedicated to SMA, it is the one venue where the entire SMA community can share data and information on an annual basis. Also to achieve meaningful communication, participants are specifically instructed to present only new, unpublished data. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. In 2010, the conference will feature a new special session that focuses on translating candidate SMA therapies from laboratory discoveries to Investigational New Drug (IND) applications to the FDA. A secondary meeting goal is to bring new researchers into the SMA community, including those located internationally. This is the only SMA focused conference that encourages attendance / presentation by post-doctoral fellows and graduate students, rather than just having PI participation. This is an essential aspect of the meeting as it helps build the future of the SMA research community. PUBLIC HEALTH RELEVANCE: Narrative Spinal Muscular Atrophy (SMA) is a neuromuscular disease affecting 1 in 6000 live births. It is the leading genetic killer of children under 2 years of age. SMA is caused by mutations in the SMN1 gene, which is deleted in over 90% of patients. Currently there is no treatment for SMA. Therefore, SMA results in a large unmet medical need throughout the world. Researchers have suggested that SMA is one of the neurological diseases closest to finding a treatment. This is due to the unique presence of a back-up gene for SMA called SMN2, providing great therapeutic possibility for the disease. Very few other diseases have such an obvious route for drug therapy. Bringing together the leading SMA research experts from around the world to share unpublished data and promote open communication and collaboration greatly quickens the pace of SMA research that will lead to a treatment for this devastating disease. Importantly, a major focus of the 2010 meeting will be special session on how to progress candidate SMA therapies from the research laboratory to the filing of an Investigational New Drug (IND) application to the FDA to begin human testing.