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

描述（由申请人提供）：Ras/MAPK途径的遗传同步：从床边到长凳和背部，将于2009年8月1日至2日在加州伯克利的Doubletree酒店和伯克利码头的行政会议中心举行。 主要研究者和本次研究研讨会的主席是凯瑟琳博士。Rauen，医学博士，博士，来自旧金山弗朗西斯科的加州大学。 科斯特洛综合征家庭网络（CSFN）前任主席Elizabeth Schoyer女士担任联合主席。 这次会议将与CSFN、CFC国际、努南综合征支持小组和神经纤维瘤病支持小组的半年一次家庭会议同时举行。 Ras/丝裂原活化蛋白激酶（MAPK）通路的失调引起的一类发育障碍已经出现。 这些综合征中的四种，包括努南综合征、科斯特洛综合征、心-面-皮肤综合征和神经纤维瘤病1型，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、肌肉骨骼和皮肤异常、神经认知延迟和癌症。 与这些疾病相关的生殖系突变位于编码Ras/MAPK途径蛋白质的基因中。 对于第一次，一个坚实的基础，为研究这些遗传综合征将允许基础科学研究人员和临床医生开始了解他们的发病机制。 这反过来将导致更好的医疗管理和可能的治疗。 本次研讨会的总体目标是为研究人员，临床医生和医生，科学家，学员和家庭提供一个开放的论坛，分享和讨论基础科学和临床问题，以便为未来的研究，针对这些综合征的治疗和最佳实践的转化应用提供坚实的框架。 通过这次研讨会，基础科学和临床研究的正式化也将深入了解癌症的原因和进展，以及了解这一关键信号转导途径如何参与正常人类发育的调节。 会议的一些基本目标是：1）与Ras/MAPK综合征患者见面并了解他们的能力，2）了解致病突变如何改变蛋白质功能以及这种改变如何有助于发病机制，3）启发临床医生和临床研究人员考虑临床问题的综合征特异性管理，4）激励Ras及相关领域的基础科学研究人员将他们的基础科学知识应用于Ras/MAPK综合征的临床方面，5）继续正式讨论Ras/MAPK通路抑制剂作为可能的个体全身治疗的应用。 公共卫生相关性：本申请请求支持题为“Ras/MAPK途径的遗传同步：从床边到工作台和背部”的科学会议。 本次研讨会将集中在努南，科斯特洛，神经纤维瘤病1，和心面皮肤综合征的分子和临床进展。 总体目标是为研究人员，临床医生，医生，科学家，受训人员和受影响的家庭提供一个开放的论坛，以分享和讨论基础科学，临床知识和患者问题，为未来的研究，针对治疗的转化应用提供坚实的框架，并为患有这些综合征的个人提供最佳实践。

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.