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Rasopathies国际学术研讨会项目摘要 第五届国际Rasopathies研讨会将于2017年7月28-30日在奥兰多文艺复兴酒店举行 酒店。会议主席是加州大学戴维斯分校的凯瑟琳·A·劳恩医学博士和 弗兰克·麦考密克，博士，FRS，来自国家癌症研究所。风湿病网络的领导者，丽莎 肖耶、MFA(PI)、Lisa Schill、BS(Co-I)和Beth Stronach博士(Co-I)是家长权益倡导者，并将提供帮助 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Rasopathy家庭相关的节目(见下文)。 Ras/丝裂原活化蛋白激酶(MAPK)通路是广泛存在的一条重要的生物通路。 对发展的影响。这一信号通路在调节细胞生长方面起着至关重要的作用， 分化、衰老和细胞凋亡，所有这些都已经在癌症的背景下进行了研究。这 Ras/MAPK途径失调对正常发育也是至关重要的 对胚胎和发育后期的影响。 Rasopathies是一组由基因胚系突变引起的医学遗传综合征 它编码RAS/MAPK途径的正负调节成分。这些症状， 有许多重叠的表型特征，包括神经纤维瘤病1型(NF1)，Noonan 综合征(NS)，NS伴多发豆状体征(NSML)，军团综合征，科斯特洛综合征(CS)，心面部疾病- 皮肤综合征(CFC)、毛细血管畸形-动静脉畸形综合征(CM-AVM)以及 常染色体显性遗传性智力残疾5型。Rasopathies共同代表了 每1000人中就有1人患有发育畸形综合征。因此，他们提供了一部小说 研究RAS途径在人类发育和肿瘤发生中的作用的机会之窗。 Rasopathy是由几种改变正常功能和调节的致病机制引起的 MAPK途径。尽管这些机制各不相同，但共同的潜在生化表型 RAS/MAPK通路失调是所有Rasopathies的共同之处。 本次研讨会将聚焦于RAS/MAPK激活和功能障碍的胚系机制。它将成为一个 研究人员、临床医生、实习生和受影响的家庭分享和讨论基础科学和临床的论坛 阐述未来研究框架的问题，针对治疗的翻译应用，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，但包括 在开发有效疗法的计划中，许多利益相关者的参与是未来科学研究不可或缺的 突破性进展。