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.

第五届国际rasopathies研讨会的项目摘要摘要 第五届国际rasopathies研讨会将于2017年7月28日至30日在奥兰多文艺复兴时期举行 酒店。会议椅是加利福尼亚大学戴维斯大学和 来自国家癌症研究所的Frank McCormick博士，FRS。 Rasopathy网络的领导者丽莎 Schoyer，MFA（PI），Lisa Schill，BS（Co-I）和Beth Stronach，PhD（CO-I）是父母的拥护者，将有助于 组织和管理会议物流。研讨会将与Costello综合征家族重叠 网络会议并提供与患有其他rasopathies的家庭有关的节目（见下文）。 RAS/有丝分裂激活的蛋白激酶（MAPK）途径是一种重要的生物学途径 发展影响。该信号通路在调节细胞生长中起着至关重要的作用， 分化，衰老和凋亡，所有这些都在癌症的背景下进行了研究。这 途径对于正常发展也很重要，因为RAS/MAPK途径失调具有深刻的有害状态 对胚胎和后来发育阶段的影响。 rasopathies是由基因种系突变引起的一组医学遗传综合征 该编码RAS/MAPK途径的正调节器和负调节器的组件。这些综合征， 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），具有多种藤本菌（NSML），Legius综合征，Costello综合征（CS）的NS，有氧运动-Facio-- 皮肤综合征（CFC），毛细血管畸形 - 动脉畸形综合征（CM-AVM）和 常染色体主导的智力残疾5型。一起，ras病代表着一个共同的群体 发育畸形综合征影响超过1000人。因此，他们提供了一本小说 研究RAS途径在人类发展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功能和调节 MAPK途径。尽管这些机制是多种多样的，但常见的基础生化表型 所有rasopathies共享的是RAS/MAPK途径失调。 该研讨会将重点放在RAS/MAPK激活和功能障碍的种系机制上。这是一个 研究人员，临床医生，学员和受影响家庭的论坛，分享和讨论基础科学和临床 为未来研究构成框架的问题，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。尽管这是第五届此类会议，但包括 在开发有效疗法的计划中，许多利益相关者的中心是未来科学不可或缺的一部分 突破。