15th 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。它影响6000个出生婴儿中的一个，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。目前还没有针对SMA的治疗方法，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SMN 2的备用基因的独特存在，提供了巨大的治疗可能性。在过去的14年里，脊髓性肌萎缩症（FSMA）家族赞助了年度国际SMA小组会议，这是唯一一次完全致力于SMA研究的公开会议。2011年的会议将于6月23日至25日在佛罗里达奥兰多的天鹅和海豚酒店举行。自成立以来，该会议的与会者已从40人增加到2010年的200多人。它是目前全球最大的SMA研究会议。该会议与FSMA家庭和专业会议同时举行，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。FSMA认为，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，促进合作，将大大加快SMA研究的步伐，从而为这种毁灭性疾病提供治疗。为了实现这一目标，FSMA组织了100%开放的会议，欢迎所有科学家参加。作为唯一一个致力于SMA的公开会议，它是整个SMA社区每年都可以持续分享信息的场所。为了实现有意义的沟通，参与者被指示只提供新的，未发表的数据。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，允许跨学科对话。2011年，会议还将举行一次特别会议，重点是小鼠和人的SMA病理学比较及其治疗意义。这是一个及时的主题，因为最近的几篇出版物表明SMA中可能存在神经元外表型，SMA通常主要被认为是运动神经元疾病。了解确切的疾病病理学将有助于研究人员开发更有针对性和更有效的药物。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。此外，这是唯一的SMA重点会议，鼓励博士后研究员和研究生出席/演讲，而不仅仅是PI参与。会议的这一关键方面有助于建立SMA研究界的未来。 公共卫生相关性：脊髓性肌萎缩症（SMA）是一种神经肌肉疾病，每6000名活产婴儿中就有一人患病。它是两岁以下儿童的主要遗传杀手。SMA是由SMN 1基因突变引起的，超过90%的患者缺失SMN 1基因。目前没有治疗SMA的方法。因此，SMA导致全球大量未满足的医疗需求。研究人员认为，SMA是最接近找到治疗方法的神经系统疾病之一。这是由于SMA的备用基因SMN 2的独特存在，为该疾病提供了巨大的治疗可能性。很少有其他疾病有如此明显的药物治疗途径。将来自世界各地的领先SMA研究专家聚集在一起，分享未发表的数据，促进开放式交流和合作，大大加快了SMA研究的步伐，这将导致对这种毁灭性疾病的治疗。2011年会议的一个主要焦点将是一个特别会议，比较SMA病理学在小鼠和人与治疗的影响。了解SMA潜在的确切缺陷将允许更有针对性和更有效的治疗开发。

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 treatment, due to the unique presence of a back-up gene called SMN2, providing great therapeutic possibility. For the past 14 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 2011 the conference will be held June 23 - 25in the Swan and Dolphin Hotel in Orlando, Florida. Since its inception, the meeting has grown from 40 attendees to over 200 in 2010. It is currently the largest SMA research conference worldwide. The conference is held simultaneously with the FSMA Families and Professional Conference, providing researchers a unique opportunity to interact with the SMA patients they are dedicated to helping. FSMA believes providing a forum for SMA 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. To achieve this, FSMA has organized the conference to be 100% open with all scientists welcome to attend. As the only open conference dedicated to SMA, it is the one venue where the entire SMA community can consistently share information on an annual basis. To achieve meaningful communication, participants are instructed to present only new, unpublished data. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research, allowing for cross-disciplinary dialogue. In 2011, the conference will also feature a special session, focusing on Comparative SMA Pathology in Mice and Man with Therapeutic Implications. This is a timely topic, as several recent publications suggest possible extra-neuronal phenotypes in SMA, which is typically considered primarily as a motor neuron disease. Understanding exact disease pathology will help researchers develop more targeted and effective drugs. A secondary meeting goal is to introduce new researchers into the SMA community, including those located internationally. Also, this is the only SMA focused conference that encourages attendance / presentation by post-doctoral fellows and graduate students, rather than just PI participation. This critical aspect of the meeting helps build the future of the SMA research community. PUBLIC HEALTH RELEVANCE: Spinal Muscular Atrophy (SMA) is a neuromuscular disease affecting one in 6000 live births. It is the leading genetic killer of children under two 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. A major focus of the 2011 meeting will be a special session on Comparative SMA Pathology in Mice and Man with Therapeutic Implications. Understanding the exact defects underlying SMA will allow for more targeted and efficient therapy development.