16th 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，尽管研究人员已经提出，由于一种名为SMN2的备用基因的独特存在，它是最接近治疗的神经系统疾病之一，提供了很大的治疗可能性。在过去的15年里，脊髓性肌萎缩症协会（FSMA）赞助了年度国际脊髓性肌萎缩症小组会议，这是唯一一个完全致力于脊髓性肌萎缩症研究的公开会议。2012年会议将于6月21日至23日在明尼苏达州布卢明顿希尔顿逸林酒店举行。自成立以来，该会议已从40名与会者发展到2011年的225名与会者。这是目前全球规模最大的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与他们致力于帮助的SMA患者互动的独特机会。FSMA相信，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。为了实现这一目标，FSMA组织了一次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社区每年都能持续分享信息的场所。为了实现有意义的交流，参与者被要求只展示新的、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，允许跨学科对话。2012年，该会议还将举行一次特别会议，重点讨论“儿科和神经学药物开发的经验教训”。通过关注其他疾病的成功药物项目，会议将重点介绍SMA药物开发的重要领域，包括儿科药物开发，药物开发中的生物标志物，临床试验设计，复杂结果测量的使用以及联合治疗的开发。会议的第二个目标是向SMA社区介绍新的研究人员，包括那些位于国际的研究人员。此外，这是唯一一个以sma为重点的会议，鼓励博士后和研究生发表演讲，而不仅仅是PI的参与。会议的这一关键方面有助于建立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 treatment, due to the unique presence of a back-up gene called SMN2, providing great therapeutic possibility. For the past 15 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 2012 the conference will be held June 21 - 23 in Bloomington, Minnesota at the DoubleTree by Hilton Hotel. Since its inception, the meeting has grown from 40 attendees to over 225 in 2011. 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 that 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 2012, the conference will also feature a special session, focusing on "Lessons Learned in Pediatric and Neurological Drug Development". By focusing on successful drug programs for other diseases, the session will highlight important areas for SMA drug development, including pediatric drug development, biomarkers in drug development, clinical trial design, use of complex outcome measures, and development of combination therapies. 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 presentation by post-doctoral fellows and graduate students, rather than just PI participation. This critical aspec of the meeting helps build the future of the SMA research community.