20th SMA Researcher Meeting

项目摘要 脊髓性肌萎缩症(SMA)是一种遗传性神经肌肉疾病，导致运动功能障碍和 死亡。每6,000到10,000名新生儿中就有一名受到影响，是两岁以下儿童的头号基因杀手 年纪大了。这种疾病的分子基础是缺乏一种特定的蛋白质--运动存活 神经元(SMN)蛋白。运动神经元功能对SMN蛋白水平降低很敏感，而这一细胞 在这些患者中，缺陷导致四肢、颈部和胸部肌肉功能的丧失。目前没有 SMA的治疗。研究人员表示，这是最接近治疗的神经系统疾病之一， 由于一种名为SMN2的备份基因的独特存在，它提供了很大的治疗可能性。 CURE SMA赞助SMA研究员会议已有20年之久。2016年，大会将于6月举行 16至18岁，在加利福尼亚州阿纳海姆的迪士尼乐园酒店。它现在是世界上最大的SMA研究会议 全球每年约有300人参加。基础研究人员、临床医生和工业研究人员都参加了 会议，允许进行对治疗发展至关重要的跨学科对话。会议召开了 与SMA年度会议同时举行，有1,200人受到SMA影响，提供 研究人员有一个独特的机会与他们致力于帮助的患者互动。 会议的主要目标是为世界各地的SMA专家提供一个分享未公布数据的场所 并开展科学合作，以加速确定治疗SMA的方法。会议 演讲分为3个主要领域：临床研究、基础研究和转化研究。 这使得来自不同科学学科的研究人员可以就SMA进行交流。此外，一个主要的 2016年会议的重点将是举行一次特别会议，主题是“不断变化的多边贸易协定的前景：审议 未来的需要“。会议的目标是讨论对研究、药物开发和 临床护理，因为药物批准可能即将到来。重点将放在如何实现有效的 为所有类型的SMA和疾病进展的所有阶段提供药物治疗和改善生活质量。 因此，本次会议将讨论二类药物的批准，联合疗法的使用，以及 登记和护理标准的重要性。为了开发治疗所有SMA患者的疗法， 对于科学界来说至关重要的是考虑联合药物或新的分子方法， 除SMN调控外，应针对该病进行追查。最后，会议的另一个目标是介绍新的 科学家们到SMA研究。这包括正在培训的研究人员，帮助建立我们研究的未来 社区和工业研究人员，帮助他们快速融入我们的研究社区。

Project Summary Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease that leads to motor dysfunction and death. It affects one in 6,000 to 10,000 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. 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 that provides great therapeutic possibility. Cure SMA has sponsored the SMA Researcher Meeting for 20 years. In 2016, the conference will be held June 16 to 18 in Anaheim, California at the Disneyland Hotel. It is now the largest SMA research conference in the world with about 300 attendees each year. Basic researchers, clinicians, and industrial researchers all attend the conference, allowing for cross-disciplinary dialogue crucial to therapy development. The meeting is held simultaneously with the Annual SMA Conference, with 1,200 people affected by SMA attending, providing researchers a unique opportunity to interact with the patients they are dedicated to helping. The major goal of the meeting is to provide a venue for SMA experts worldwide to share unpublished data and develop scientific collaborations to hasten the identification of a treatment for SMA. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. This allows researchers from different scientific disciplines to communicate about SMA. In addition, a major focus of the 2016 meeting will be a special session on “The Changing Landscape of SMA: Consideration of Future Needs”. The goal of the session is to discuss the implications for research, drug development, and clinical care as drug approvals possibly near. There will be an emphasis on how to move towards effective drug treatments and improved quality of life for all types of SMA and at all stages of disease progression. Therefore, this session will discuss approval of second-in-class drugs, the use of combination therapies, and the importance of registries and standards of care. In order to develop therapies to treat all SMA patients, it is critical for the scientific community to consider whether combination drugs or novel molecular approaches, beyond SMN regulation, should be pursued for the disease. Finally, another meeting goal is to introduce new scientists to SMA research. This includes researchers in training, helping to build the future of our research community and industrial researchers, helping to integrate them quickly into our research community.