Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back

Ras/MAPK 通路的遗传综合征：从床边到工作台再回来

• 批准号: 7674309
• 负责人: Katherine Anna Rauen
• 金额: $ 2.8万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-05-01 至 2010-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7674309
• 关键词: Affect; Applications Grants; Back; Basic Science; California; Cardiovascular system; Clinical; Clinical Management; Clinical Research; Costello syndrome; Cutaneous; Disease; Doctor of Medicine; Doctor of Philosophy; Face; Family; Foundations; Future; Genes; Genetic; Germ-Line Mutation; Goals; Human Development; Individual; International; Knowledge; Lead; Learning; Malignant Neoplasms; Medical; Mitogen-Activated Protein Kinases; Molecular; Musculoskeletal; Mutation; Neurocognitive; Neurofibromatoses; Neurofibromatosis 1; Noonan Syndrome; Pathogenesis; Pathway interactions; Patients; Physicians; Principal Investigator; Regulation; Request for Applications; Research; Research Personnel; San Francisco; Scientist; Signal Transduction Pathway; Solid; Support Groups; Syndrome; Systemic Therapy; Time; Translational Research; Universities; bench to bedside; developmental disease; direct application; inhibitor/antagonist; insight; meetings; protein function; public health relevance; ras Proteins; symposium; tumor progression

DESCRIPTION (provided by applicant): Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back, will be held on August 1-2, 2009 in Berkeley, CA at the Doubletree Hotel and Executive Meeting Center at the Berkeley Marina. The principal investigator and chair of this research symposium is Dr. Katherine A. Rauen, M.D., Ph.D., from the University of California, San Francisco. Ms. Elizabeth Schoyer, past-President of the Costello Syndrome Family Network (CSFN) serves as Co- Chair. This meeting will be held in conjunction with the biannual family meetings of the CSFN, CFC International, Noonan Syndrome Support Group, and the neurofibromatosis support groups. A class of developmental disorders caused by dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway has emerged. Four of these syndromes, including Noonan, Costello, cardio-facio-cutaneous, and neurofibromatosis 1, all have overlapping phenotypic features characterized by distinctive facial features, cardiovascular anomalies, musculoskeletal and cutaneous abnormalities, neurocognitive delay, and cancer. The germline mutations associated with these disorders are in genes that encode proteins of the Ras/MAPK pathway. For the first time, a solid foundation for the study of these genetic syndromes will allow basic science researchers and clinicians to begin to understand their pathogenesis. This, in turn, will lead to better medical management and possible therapy. The overall goal of this symposium is to provide an open forum for researchers, clinicians and physician-scientists, trainees and families to share and discuss basic science and clinical issues in order to set forth a solid framework for future research, translational applications directed towards therapy and best practices for individuals with these syndromes. Formalization of basic science and clinical research through this symposium will also provide insight into the cause and progression of cancer, as well as the understanding of how this critical signal transduction pathway is involved in the regulation of normal human development. Some basic objectives of the meeting are 1) meet individuals with Ras/MAPK syndromes and learn of their capacities, 2) learn how causative mutations alter protein function and how this alteration may contribute to the pathogenesis, 3) inspire clinicians and clinical researchers to consider syndrome specific management of clinical issues, 4) inspire basic science researchers in Ras and related fields to apply their basic science knowledge to the clinical aspects of Ras/MAPK syndromes, and 5) continue formal discussion in the application of Ras/MAPK pathway inhibitors as possible systemic therapy for individuals. PUBLIC HEALTH RELEVANCE: This application requests support for the scientific meeting entitled, "Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back". This symposium will focus on recent molecular and clinical advances of Noonan, Costello, neurofibromatosis 1, and cardio-facio-cutaneous syndromes. The overall goal is to provide an open forum for researchers, clinicians, physician-scientists, trainees, and affected families to share and discuss basic science, clinical knowledge and patient issues setting forth a solid framework for future research, translational applications directed towards therapy, and best practices for individuals with these syndromes.

描述（由申请人提供）：RAS/MAPK途径的遗传综合症：从床边到长凳再到背部，将于2009年8月1日至2日在加利福尼亚州伯克利市的Doubletree Hotel和伯克利码头的执行会议中心举行。 该研究研讨会的首席研究员兼主席是加利福尼亚大学旧金山分校的凯瑟琳·劳恩（Katherine A. Rauen）博士。 Costello综合征家庭网络（CSFN）的前任总裁Elizabeth Schoyer女士担任主席。 这次会议将与CSFN，CFC International，Noonan综合征支持小组和神经纤维瘤病支持小组的双年度家庭会议一起举行。 由于RAS/有丝分裂原激活的蛋白激酶（MAPK）途径的失调引起的一系列发育障碍已出现。 这些综合症中有四个，包括Noonan，Costello，心脏 - 毛皮和神经纤维瘤病1，都具有重叠的表型特征，其特征在于独特的面部特征，心血管异常，心脏骨骼异常和皮肤异常和皮肤异常，神经认知延迟和癌症。 与这些疾病相关的种系突变是在编码RAS/MAPK途径蛋白质的基因中。 这是对这些遗传综合征的研究的稳固基础，这将使基础科学研究人员和临床医生开始理解其发病机理。 反过来，这将导致更好的医疗管理和可能的治疗。 该研讨会的总体目标是为研究人员，临床医生和医师科学家，受训者和家庭提供一个开放的论坛，以共享和讨论基础科学和临床问题，以为未来的研究，针对这些综合症患者患者进行治疗的转化应用以及最佳实践的稳定框架。 通过本次研讨会对基础科学和临床研究的形式化还将提供有关癌症的原因和进展的见解，以及对这种关键信号转导途径如何涉及正常人类发展的调节。 会议的一些基本目标是1）结识患有RAS/MAPK综合征的人并了解其能力，2）了解致病突变如何改变蛋白质的功能，以及这种改变可能导致发病机理，3）激发临床医生和临床研究人员，激发临床综合症的特定问题，4）临床科学领域的临床科学领域，以应用于临床科学领域，以应用其临床科学研究人员，以应用其临床科学领域的知识，以应用其临床科学领域的知识，综合征和5）在应用RAS/MAPK途径抑制剂的应用中继续进行正式讨论，以作为个体的全身治疗。 公共卫生相关性：该应用程序要求对科学会议的支持，标题为“ RAS/MAPK途径的遗传综合征：从床头到长凳再到背部”。 该研讨会将集中于Noonan，Costello，Neurofibromomatosis 1和心脏 - 触及二脑综合征的近期分子和临床进展。 总体目标是为研究人员，临床医生，医师科学家，学员和受影响的家庭提供一个开放的论坛，以共享和讨论基础科学，临床知识和患者问题，为未来的研究，针对治疗的转化应用以及这些综合症患者的最佳实践提供了一个可靠的框架。