18th Annual International Spinal Muscular Atrophy Research Group Meeting

第 18 届国际脊髓性肌萎缩症研究组年度会议

• 批准号: 8783928
• 负责人: Jill Jarecki
• 金额: $ 2.8万
• 依托单位: FAMILIES OF SPINAL MUSCULAR ATROPHY
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-06-06 至 2015-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8783928
• 关键词: Affect; Age-Years; Area; Back; Basic Science; Cessation of life; Chest; Child; Clinical; Clinical Research; Collaborations; Communication; Communities; Country; Data; Defect; Discipline; Disease; Disease Progression; Drug Targeting; Ensure; Event; FDA approved; Family; Fees; Financial Support; Functional disorder; Funding; Future; Genes; Genetic; Goals; Group Meetings; Industry; Inherited; Institution; International; Life; Limb structure; Live Birth; Maryland; Medical; Molecular; Motor; Motor Neurons; Muscle; Muscle function; Mutation; Neck; Neuromuscular Diseases; Patients; Pharmaceutical Preparations; Pharmacologic Substance; Pharmacotherapy; Production; Proteins; Research; Research Personnel; Route; SMN protein (spinal muscular atrophy); SMN1 gene; SMN2 gene; Scientist; Spinal Muscular Atrophy; Staging; Students; Therapeutic; Training; Translational Research; Work; base; drug development; meetings; motor neuron function; nervous system disorder; posters; public health relevance; 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 in 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. 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. Families of SMA (FSMA) have sponsored the International SMA Research Group Meeting for 18 years. In 2014 the conference will be held from June 12 to June 14 at the Gaylord Hotel in National Harbor. It is currently the largest annual research conference for SMA worldwide with about 225 attendees each year. Basic researchers, clinicians, and industrial researchers all attend the conference, allowing for cross-disciplinary dialogue. Also, the meeting is held simultaneously with the FSMA-hosted SMA Family Conference, providing researchers a unique opportunity to interact with the SMA patients they are dedicated to helping. Our overall meeting goal is to provide a venue for SMA experts from around the world to share unpublished data and develop scientific collaborations. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. Communication among researchers from these different scientific disciplines should help accelerate the pace of SMA research and hasten the identification of an FDA- approved treatment for this devastating disease. A major focus of the 2014 meeting will be a special session on "Moving beyond SMN? Strategies to Identify Non-SMN Drug Targets for Spinal Muscular Atrophy". There are now over a dozen drugs in the SMA drug pipeline, with the majority focused on SMN enhancing therapies. A major goal for Families of SMA is to ensure therapies are developed to treat all types of SMA and at every stage of disease progression. Thus, it remains critical for the SMA research community to consider whether this approach will be viable for all types and stages of SMA and whether additional molecular approaches should also be pursued for the treatment of SMA. Finally, an important secondary goal for the meeting is to introduce new researchers to the SMA research community. This includes scientists in training, which helps to build the future of our research community. It also includes companies newly working on SMA drug development, which helps these groups integrate more quickly.

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个新生儿中就有一个患有这种疾病，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。研究人员认为，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，为治疗提供了巨大的可能性。SMA之家（FSMA）发起国际SMA研究小组会议已有18年。2014年的会议将于6月12日至6月14日在国家港的盖洛德酒店举行。它是目前全球规模最大的SMA年度研究会议，每年约有225名与会者。基础研究人员，临床医生和工业研究人员都参加了会议，允许跨学科对话。此外，会议与fsma主办的SMA家庭会议同时举行，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。我们的总体目标是为来自世界各地的SMA专家提供一个分享未发表数据和发展科学合作的场所。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。来自这些不同科学学科的研究人员之间的交流应该有助于加快SMA研究的步伐，并加快FDA批准的治疗这种毁灭性疾病的方法的确定。2014年会议的一个主要焦点将是关于“超越SMN?”确定脊髓性肌萎缩症非smn药物靶点的策略”。目前有超过12种药物在SMA药物管道中，其中大多数专注于SMN增强疗法。SMA家庭的一个主要目标是确保开发出治疗所有类型的SMA和疾病进展的每个阶段的疗法。因此，对于SMA研究界来说，考虑这种方法是否对所有类型和阶段的SMA都是可行的，以及是否应该寻求其他的分子方法来治疗SMA仍然是至关重要的。最后，会议的一个重要的次要目标是向SMA研究界介绍新的研究人员。这包括正在接受培训的科学家，这有助于建立我们研究界的未来。它还包括新从事SMA药物开发的公司，这有助于这些团体更快地整合。