15th Annual International Spinal Muscular Atrophy Research Group Meeting

第 15 届国际脊髓性肌萎缩症研究组年度会议

• 批准号: 8203895
• 负责人: Jill Jarecki
• 金额: $ 2.5万
• 依托单位: FAMILIES OF SPINAL MUSCULAR ATROPHY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-06-09 至 2013-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8203895
• 关键词: Affect; Age-Years; Area; Back; Basic Science; Cessation of life; Chest; Child; Clinical Research; Collaborations; Communication; Communities; Data; Defect; Disease; Dolphins; Family; Florida; Fostering; Functional disorder; Future; Genes; Genetic; Goals; Grant; Group Meetings; Industry; Inherited; International; Lead; Life; Limb structure; Live Birth; Medical; Molecular; Motor; Motor Neuron Disease; Mus; Muscle; Muscle function; Mutation; National Institute of Neurological Disorders and Stroke; Neck; Neuromuscular Diseases; Neurons; Participant; Pathology; Patients; Pharmaceutical Preparations; Pharmacotherapy; Phenotype; Postdoctoral Fellow; Production; Proteins; Publications; Research; Research Personnel; Route; SMN protein (spinal muscular atrophy); SMN1 gene; SMN2 gene; Scientist; Spinal Muscular Atrophy; Therapeutic; Translational Research; base; comparative; cost; drug development; effective therapy; graduate student; man; meetings; motor neuron function; nervous system disorder; symposium; therapy development

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.

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14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脊髓性肌萎缩症研究的公开会议。2011年的会议将于6月23日至25日在佛罗里达州奥兰多的天鹅和海豚酒店举行。自成立以来，该会议已从40人发展到2010年的200多人。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。2011年，会议还将举办一个特别会议，重点讨论小鼠和人类SMA病理的比较及其治疗意义。这是一个及时的话题，因为最近的一些出版物表明，SMA可能存在神经元外表型，它通常被认为主要是一种运动神经元疾病。了解确切的疾病病理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，鼓励博士后研究员和研究生参加/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。