16th Annual International Spinal Muscular Atrophy Research Group Meeting

第 16 届国际脊髓性肌萎缩症研究组年度会议

• 批准号: 8397155
• 负责人: Jill Jarecki
• 金额: $ 2.75万
• 依托单位: FAMILIES OF SPINAL MUSCULAR ATROPHY
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-06-20 至 2013-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8397155
• 关键词: Affect; Age-Years; Area; Back; Basic Science; Biological Markers; Cessation of life; Chest; Child; Childhood; Clinical Research; Clinical Trials Design; Collaborations; Combined Modality Therapy; Communication; Communities; Complex; Data; Defect; Development; Disease; Family; Fostering; Functional disorder; Future; Genes; Genetic; Goals; Grant; Group Meetings; Industry; Inherited; International; Learning; Life; Light; Limb structure; Live Birth; Medical; Minnesota; Molecular; Motor; Muscle; Muscle function; Mutation; National Institute of Neurological Disorders and Stroke; Neck; Neurologic; Neuromuscular Diseases; Outcome Measure; Participant; Patients; Pharmaceutical Preparations; Pharmacotherapy; Postdoctoral Fellow; Production; Proteins; Research; Research Personnel; Route; SMN protein (spinal muscular atrophy); SMN1 gene; SMN2 gene; Scientist; Spinal Muscular Atrophy; Therapeutic; Translational Research; base; cost; drug development; effective therapy; graduate student; meetings; motor neuron function; nervous system disorder; programs; symposium

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.

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15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。2012年会议将于6月21日至23日在明尼苏达州布卢明顿的希尔顿逸林酒店举行。自成立以来，该会议的与会者已从40人增加到2011年的225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，进行公开交流，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。2012年，会议还将举行一次特别会议，重点是“儿科和神经病学药物开发中的经验教训”。通过关注其他疾病的成功药物计划，会议将突出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，复杂结局指标的使用以及联合治疗的开发。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，这是唯一一个以SMA为重点的会议，鼓励博士后研究员和研究生的演讲，而不仅仅是PI的参与。会议的这一关键方面有助于建立SMA研究社区的未来。