5th International RASopathies Symposium

第五届国际RASopathies研讨会

• 批准号: 9330394
• 负责人: Lisa Schoyer
• 金额: $ 2.4万
• 依托单位: RASOPATHIES NETWORK USA
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-06-06 至 2018-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9330394
• 关键词: Advocacy; Advocate; Affect; Apoptosis; Arteriovenous malformation; Basic Science; Biochemical; Biological Models; Blood capillaries; California; Caring; Characteristics; Clinical; Clinical Trials; Communication; Communities; Costello syndrome; Cutaneous; Development; Diagnosis; Doctor of Philosophy; Embryo; Ensure; Family; Family member; Functional disorder; Future; Genes; Genetic; Germ-Line Mutation; Glean; Goals; Growth; Hearing; Homeostasis; Human Development; Individual; Industry; Intellectual functioning disability; International; Knowledge; Learning Disabilities; Logistics; Malignant Neoplasms; Medical; Medical Genetics; Mitogen-Activated Protein Kinases; Molecular; Monitor; Multiple Lentigines; National Cancer Institute; Neurofibromatosis 1; Noonan Syndrome; Osteoporosis; Parents; Pathway interactions; Patients; Pharmacologic Substance; Phenotype; Play; Population; Quality of life; Regulation; Renaissance; Research; Research Personnel; Role; Scheme; Scientist; Signal Pathway; Signal Transduction; State-of-the-Art Reviews; Support Groups; Syndrome; System; Techniques; Therapeutic Intervention; Time; Universities; capillary; cell behavior; cell growth regulation; clinical phenotype; clinical practice; direct application; effective therapy; knowledge translation; malformation; meetings; novel; posters; programs; senescence; symposium; tumorigenesis

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.

项目摘要 第五届国际 RASopathies 研讨会摘要 第五届国际 RASopathies 研讨会将于 2017 年 7 月 28-30 日在奥兰多万丽酒店举行 酒店。会议主席是来自加州大学戴维斯分校的医学博士、哲学博士 Katherine A. Rauen 和 Frank McCormick，博士，FRS，来自美国国家癌症研究所。 RASopathy 网络的领导者 Lisa Schoyer, MFA (PI)、Lisa Schill, BS (Co-I) 和 Beth Stronach, Ph.D (Co-I) 是家长倡导者，将提供帮助 组织和管理会议后勤工作。研讨会将与科斯特洛综合症家族重叠 网络会议并提供与患有其他 RASopathies 的家庭相关的节目（见下文）。 Ras/丝裂原激活蛋白激酶（MAPK）途径是一条重要的生物途径，具有广泛的应用前景。 发展影响。该信号通路在细胞生长调节中发挥着重要作用， 分化、衰老和细胞凋亡，所有这些都在癌症的背景下进行了研究。这 通路对于正常发育也至关重要，因为 Ras/MAPK 通路失调具有深远的有害作用。 对胚胎和发育后期的影响。 RASopathies 是一组由基因种系突变引起的医学遗传综合征 编码 Ras/MAPK 通路的正调节因子和负调节因子。这些综合症， 它们具有许多重叠的表型特征，包括 1 型神经纤维瘤病 (NF1)、Noonan 综合征 (NS)、伴有多发性雀斑的 NS (NSML)、Legius 综合征、Costello 综合征 (CS)、心脏面容- 皮肤综合征（CFC）、毛细血管畸形-动静脉畸形综合征（CM-AVM）和 常染色体显性遗传性智力障碍 5 型。 RASopathies 共同代表一组常见的疾病 影响千分之一以上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之窗。 RAS 病是由多种改变正常功能和调节的发病机制引起的。 MAPK 途径。尽管这些机制多种多样，但共同的潜在生化表型 所有 RASopathies 共有的一个特点是 Ras/MAPK 通路失调。 本次研讨会将重点关注Ras/MAPK激活和功能障碍的种系机制。它是要成为一个 供研究人员、临床医生、学员和受影响家庭分享和讨论基础科学和临床的论坛 为未来的研究、针对治疗的转化应用制定一个框架，以及 Ras/MAPK 通路综合征的最佳临床实践。尽管这是第五次此类会议，但 许多利益相关者参与开发有效疗法的计划是未来科学不可或缺的一部分 突破。