The 6th Annual Pathobiology of Cerebral Cavernous Malformations (CCM) Scientific

描述（申请人提供）：脑海绵状血管病（CCM）是一种中枢神经系统血管性疾病。这种疾病的症状包括神经功能障碍、癫痫发作和出血性中风，这是由大脑和脊髓内血管病变的发展引起的。目前对于这种疾病的患者没有药物治疗选择。手术切除病变是唯一的选择，尽管并非所有患者都适合手术。CCM可能是偶发的，也可能是由三种基因（CCM1、CCM2和CCM3）中的一种突变引起的。这些基因产物的功能在1999年、2001年和2005年分别被鉴定出来时是完全未知的。由于这些基因的鉴定，研究CCM的发病机制和确定病因的兴趣越来越大。来自不同领域的临床医生和研究人员研究了与基因功能、信号机制、血管生物学以及正常血管结构如何在疾病状态下丢失有关的问题。建立全面的CCM发病机制模型，最终开展无创治疗和治愈所需的研究，需要整个CCM疾病研究领域的合作投入。在2005年之前，没有专门针对CCM生物学的科学会议、会议或研讨会。因此，血管瘤联盟，一个为CCM患者提供支持的组织，在2005年11月建立了第一个研讨会，并在过去的五年里继续主办和支持这个年度会议。CCM病理生物学科学研讨会是一个为期两天的会议，包括口头报告和讨论与CCM生物学相关的临床、基础和翻译科学。如果没有CCM研讨会，这些科学家就没有机会相互交流——从科学的角度讲，他们各自的领域在其他更大的国家会议上通常不会重叠。由于对CCM病理生物学的兴趣日益增加，本提案旨在申请部分资金，以扩大会议的范围，包括代表新的科学领域，并为年轻研究者、博士后研究员和博士候选人提供额外的支持和培训机会。为这一建议和CCM讲习班的持续成功，制定了三个具体目标：促进不同学科与学员之间的交流与合作。2. 与CCM研究界的成员分享最近的研究和临床发现。3. 讨论当前数据的生物学意义以及对未来发展CCM药物治疗和启动临床试验的影响。！

DESCRIPTION (provided by applicant): Cerebral Cavernous Malformations (CCM) is a vascular disorder of the central nervous system. Symptoms of this disorder include neurological deficit, seizures and hemorrhagic stroke as a result from the development of vascular lesions within the brain and spinal cord. Currently there is no pharmacological treatment option for patients with this disorder. Surgical resection of the lesions is the only option, though not all patients are candidates for surgery. CCM may occur sporadically, or due to mutations in one of three genes (CCM1, CCM2, and CCM3). The function of these gene products was entirely unknown when each gene was identified 1999, 2001, and 2005, respectively. Since the identification of these genes there has been increasing interest in studying the pathogenesis and determining the etiology of CCM. Clinicians and researchers from distinct fields have investigated questions relating to gene function, signaling mechanisms, vascular biology and how the structure of the normal vasculature is lost in the disease state. Establishing a comprehensive model for CCM pathogenesis and ultimately conducting the studies necessary to develop a non-invasive treatment and cure requires cooperative input from the entire field of CCM disease research. Prior to 2005, there were no scientific conferences, meetings, or workshops focused specifically on the biology of CCM. Therefore, Angioma Alliance, the advocacy group for those affected by CCM, established the first workshop in November of 2005 and has continued to host and support this annual meeting for the past five years. The Pathobiology of CCM Scientific Workshop is a two-day meeting consisting of oral presentations and discussion of the clinical, basic and translations science associated with CCM biology. Without the CCM workshop, these researchers would not have the opportunity to interact with one another - scientifically, their individual fields generally do not overlap at other larger national meetings. Because of the increasing interest in the pathobiology of CCM, this proposal is designed to request partial funding to expand the scope of the meeting to include representation of new scientific fields and to provide additional support and training opportunities for young investigators, postdoctoral fellows, and PhD candidates. Three specific aims were developed for this proposal and for the continued success of the CCM workshop: 1. to foster communication and collaboration between distinct scientific disciplines and trainees. 2. To share recent research and clinical findings with members of the CCM research community. 3. To discuss the biological implications of the presented data and the impact on the future of developing a pharmacological treatment for CCM and initiation of clinical trials. ! PUBLIC HEALTH RELEVANCE: Cerebral Cavernous Malformations (CCM) is a vascular disorder of the central nervous system that causes a high probability of serious neurological morbidity including, seizures and hemorrhagic stroke. Specific medical therapies for this disorder are not available. The Pathobiology of CCM Scientific Workshop is a forum for clinicians and scientists to disseminate research findings and to discuss the biology of CCM and the potential for development of pharmacological treatment options to improve patient care and public health.