20th SMA Researcher Meeting

第20届SMA研究员会议

• 批准号: 9192684
• 负责人: Jill Jarecki
• 金额: $ 2万
• 依托单位: FAMILIES OF SPINAL MUSCULAR ATROPHY
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-06-15 至 2017-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9192684
• 关键词: Affect; Age-Years; Area; Back; Basic Science; Biotechnology; California; Caring; Cessation of life; Chest; Child; Clinical; Clinical Research; Collaborations; Combined Modality Therapy; Communication; Communities; Country; Data; Defect; Discipline; Disease; Disease Progression; Drug Approval; Drug Combinations; Drug usage; Event; Family; Fees; Financial Support; Funding; Future; Genes; Genetic; Goals; Industry; Inherited; Institution; Life; Limb structure; Live Birth; Medical; Molecular; Motor Neurons; Muscle function; Muscular Atrophy; Mutation; Neck; Neuromuscular Diseases; Patients; Pharmaceutical Preparations; Pharmacologic Substance; Pharmacotherapy; Production; Proteins; Quality of life; Registries; Regulation; Research; Research Personnel; Route; SMN protein (spinal muscular atrophy); SMN1 gene; SMN2 gene; Scientist; Spinal Muscular Atrophy; Staging; Students; Therapeutic; Training; Translational Research; base; clinical care; demographics; drug development; improved; meetings; motor disorder; motor neuron function; nervous system disorder; neuron loss; novel; posters; symposium; therapy development

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.

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个新生儿中就有一个受到影响，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缺乏一种特定的蛋白质-运动细胞存活 神经元（SMN）蛋白。运动神经元功能对SMN蛋白水平的降低敏感，并且这种细胞功能对SMN蛋白水平的降低敏感。 缺陷导致这些患者四肢、颈部和胸部肌肉功能丧失。目前没有 治疗SMA。研究人员认为，这是最接近治疗的神经系统疾病之一， 这是由于一种称为SMN 2的备用基因的独特存在，该基因提供了巨大的治疗可能性。 Cure SMA赞助SMA研究人员会议已有20年。2016年，会议将于6月举行。 16至18日在阿纳海姆，加州的迪斯尼乐园酒店。它现在是世界上最大的SMA研究会议 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，允许跨学科的对话至关重要的治疗发展。会议召开 与年度SMA会议同时举行，有1，200名受SMA影响的人参加，提供 研究人员有一个独特的机会与他们致力于帮助的病人互动。 会议的主要目标是为全球SMA专家提供一个分享未发表数据的场所 并开展科学合作，以加速确定SMA的治疗方法。会议 演讲分为三个主要领域：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能够就SMA进行交流。此外，一个主要 2016年会议的重点将是关于“SMA不断变化的格局：考虑 未来的需要”。会议的目标是讨论对研究，药物开发， 临床护理作为药物批准可能接近。将强调如何实现有效的 药物治疗和改善所有类型SMA和疾病进展各个阶段的生活质量。 因此，本次会议将讨论第二类药物的批准，联合治疗的使用， 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，考虑联合药物或新的分子方法， 除了SMN监管之外，还应针对疾病进行治疗。最后，会议的另一个目标是介绍新的 科学家对SMA的研究。这包括培训研究人员，帮助建立我们研究的未来 社区和工业研究人员，帮助他们迅速融入我们的研究社区。