21st 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，可导致运动功能障碍， 死亡每6，000到10，000个婴儿中就有一个受到影响，它是两岁以下儿童的主要遗传杀手 年龄。这种疾病的分子基础是一种特定蛋白质的产生缺陷-- 运动神经元（SMN）蛋白。运动神经元功能对SMN蛋白水平降低敏感， 细胞缺陷导致四肢、颈部和胸部肌肉功能丧失。目前没有治疗方法 对于SMA。然而，研究人员认为，它是最接近神经系统疾病之一， 治疗，由于一个独特的存在备份基因称为SMN 2。事实上，去年9月， 向FDA提交了首个针对SMA的NDA，用于靶向SMN 2备用基因的药物。 Cure SMA赞助SMA研究人员会议已有21年。2017年，大会将在 6月29日至7月2日在奥兰多，佛罗里达在当代酒店。它是目前最大的SMA研究会议 每年有超过330名与会者。基础研究人员、临床医生和工业研究人员都 参加会议，允许跨学科的对话至关重要的治疗发展。这次会议是 与SMA年会同时举行，有1,200名SMA患者参加。 会议的主要目标是为SMA专家提供一个分享未发表数据和开发科学成果的场所 合作，以加速开发SMA的治疗方法。会议介绍分为3个部分 主要领域：临床研究、基础研究和转化研究。这使得研究人员从 不同的科学学科来交流有关SMA的信息。另一个重要的会议目标是引进新的 科学家对SMA的研究。这包括培训研究人员，以建立我们研究社区的未来 和工业研究人员，使他们迅速融入我们的研究社区。最后， 2017年会议将是关于“疲劳和肌肉无力在SMA中的作用， 治疗意义”。如上所述，随着SMN增强，SMA领域取得了重大进展。 方法，但要从这种治疗方法中获得最大的影响，早期治疗可能会 必需的.因此，本次会议的目标是讨论新的机制，可能会导致更大的运动 以及SMA晚期的肌肉功能。许多老年SMA患者认为疲劳和耐力是 这是一个值得关注的问题，但对生物起源以及治疗方案知之甚少。的 会议将从临床和生物学的角度讨论这些问题，分解潜在的作用， 运动单元的不同组成部分以及可能的治疗干预方法。

Project Summary Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease that leads to motor dysfunction and death. Affecting one in 6,000 to 10,000 babies born, it is the leading genetic killer of children under two years of age. The molecular basis of the disease is a deficiency in the production of a specific protein – Survival of Motor Neuron (SMN) protein. Motor neuron function is sensitive to reduced SMN protein levels, and this cellular defect leads to the loss of muscle function in the limbs, neck, and chest. Currently there is no treatment for SMA. However, 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. In fact, this past September Biogen submitted the first ever NDA for SMA to the FDA for a drug targeting the SMN2 back-up gene. Cure SMA has sponsored the SMA Researcher Meeting for 21 years. In 2017, the conference will be held June 29 to July 2 in Orlando, Florida at the Contemporary Hotel. It is now the largest SMA research conference worldwide with more than 330 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. The major meeting goal is to provide a venue for SMA experts to share unpublished data and develop scientific collaborations to hasten the development of a cure for SMA.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. Another important meeting goal is to introduce new scientists to SMA research. This includes researchers in training to build the future of our research community and industrial researchers to integrate them quickly into our research community. Finally, a major focus of the 2017 meeting will be a special session on “The Role of Fatigue and Muscle Weakness in SMA with Therapeutic Implications”. As mentioned above, the SMA field has made major advances with SMN enhancing approaches, but to achieve the greatest impact from this therapeutic approach, early treatment will likely be required. Therefore, the goal of this session is to discuss novel mechanisms that could result in greater motor and muscle function at advanced stages of SMA. Many older SMA patients cite fatigue and endurance as a significant concern, yet the biological origin, as well as the treatment options are poorly understood. The session will discuss these concerns from a clinical and biological perspective, breaking down the potential role of the different components of the motor unit and possible ways to intervene therapeutically.