5th International RASopathies Symposium

第五届国际狂犬病研讨会项目摘要 第五届国际RASopathies研讨会将于2017年7月28日至30日在奥兰多万丽酒店举行 酒店会议主席是凯瑟琳A。Rauen，医学博士，博士，来自加州大学戴维斯分校， Frank McCormick博士，FRS，来自国家癌症研究所。RASopathy网络的领导者，丽莎 Schoyer，MFA（PI），丽莎希尔，BS（Co-I）和贝丝Stronach，博士（Co-I）是家长的拥护者，将帮助 组织和管理会议后勤。研讨会将与科斯特洛综合征家族重叠 网络会议，并提供与其他RASopathies家庭相关的节目（见下文）。 Ras/丝裂原活化蛋白激酶（MAPK）通路是一条重要的生物学通路， 发展影响。这种信号通路在细胞生长的调节中起着重要作用， 分化、衰老和凋亡，所有这些都已经在癌症的背景下进行了研究。这 由于Ras/MAPK途径失调对正常发育具有深刻的有害作用， 对胚胎和后期发育的影响。 RASopathies是一组医学遗传综合征，由基因的生殖细胞突变引起 其编码Ras/MAPK途径的正调节子和负调节子。这些症状， 它们具有许多重叠的表型特征，包括1型神经纤维瘤病（NF 1）、努南型神经纤维瘤病（Noonan 综合征（NS）、NS伴多发性雀斑（NSML）、Legius综合征、Costello综合征（CS）、心-面- 皮肤综合征（CFC）、毛细血管畸形-动静脉畸形综合征（CM-AVM），以及 常染色体显性智力残疾5型。RASopathies共同代表了一个共同的群体， 影响超过1/1000个体的发育畸形综合征。因此，他们提供了一本小说， 研究Ras通路在人类发育和肿瘤发生中的作用的机会窗口。 RASopathies是由几种致病机制引起的，这些机制改变了正常的功能和调节， MAPK通路。虽然这些机制是不同的，共同的潜在生化表型 所有RASopathies共有的是Ras/MAPK通路失调。 本次研讨会将重点讨论Ras/MAPK激活和功能障碍的生殖系机制。它是一个 研究人员，临床医生，学员和受影响的家庭分享和讨论基础科学和临床 提出未来研究框架的问题，针对治疗的转化应用，以及 Ras/MAPK途径综合征的最佳临床实践。虽然这是第五次这样的会议， 许多利益相关者参与开发有效疗法的计划是未来科学研究的组成部分。 突破

PROJECT SUMMARY ABSTRACT for The 5th International RASopathies Symposium The 5th International RASopathies Symposium will be held July 28-30, 2017 at the Renaissance Orlando Hotel. The meeting chairs are Katherine A. Rauen, MD, PhD, from the University of California, Davis and Frank McCormick, PhD, FRS, from the National Cancer Institute. Leaders of the RASopathy Network, Lisa Schoyer, MFA (PI), Lisa Schill, BS (Co-I), and Beth Stronach, PhD (Co-I) are parent advocates and will help organize and manage meeting logistics. The symposium will overlap with the Costello Syndrome Family Network conference and provide programming relevant to families with other RASopathies (see below). The Ras/mitogen activated protein kinase (MAPK) pathway is an important biologic pathway with broad developmental impact. This signaling pathway plays an essential role in the regulation of cell growth, differentiation, senescence, and apoptosis, all of which have been studied in the context of cancer. This pathway is also critical to normal development as Ras/MAPK pathway dysregulation has profound deleterious effects on both embryonic and later stages of development. The RASopathies are a group of medical genetic syndromes that are caused by germline mutations in genes that encode components, both positive and negative regulators, of the Ras/MAPK pathway. These syndromes, which share many overlapping phenotypic characteristics, include neurofibromatosis type 1 (NF1), Noonan syndrome (NS), NS with multiple lentigines (NSML), Legius syndrome, Costello syndrome (CS), cardio-facio- cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and autosomal dominant intellectual disability type 5. Together, the RASopathies represent a common group of developmental malformation syndromes affecting more than 1 in 1000 individuals. Hence, they offer a novel window of opportunity to investigate the role of the Ras pathway in human development and oncogenesis. RASopathies are caused by several pathogenetic mechanisms that alter the normal function and regulation of the MAPK pathway. Although these mechanisms are diverse, the common underlying biochemical phenotype shared by all the RASopathies is Ras/MAPK pathway dysregulation. This symposium will focus on the germline mechanisms of Ras/MAPK activation and dysfunction. It is to be a forum for researchers, clinicians, trainees, and affected families to share and discuss basic science and clinical issues to set forth a framework for future research, translational applications directed towards therapy, and best clinical practices for Ras/MAPK pathway syndromes. Though this is the fifth such meeting, the inclusion of many stakeholders in the scheme of developing effective therapies is integral to future scientific breakthroughs.