International Meeting on Genetic Syndromes of the Ras/MAPK Pathway

描述（由申请人提供）：Ras/MAPK通路的遗传协同作用国际会议：寻找我们回到床边的路将于2011年7月22日至24日在芝加哥，IL在威斯汀奥黑尔举行。本研究研讨会的PI和联合主席是布鲁斯D。Gelb博士，西奈山医学院。来自哈佛医学院的医学博士艾米·罗伯茨和科斯特洛综合征家庭网络（CSFN）的前任主席丽莎·肖耶女士担任联合主席。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家庭会议一起举行。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。这些综合征包括努南综合征、LEOPARD综合征、Costello综合征、心-面-皮肤综合征和神经纤维瘤病，具有重叠的表型特征，包括面部畸形、心血管异常、肌肉骨骼和皮肤异常、神经认知延迟和癌症。引起这些疾病的生殖系突变改变Ras/MAPK途径蛋白。这些综合征的遗传基础的阐述使研究人员能够探索其发病机制。我们的最终目标是开发更好的医疗管理和建立新的治疗方法。本次研讨会的总体目标是为临床医生，研究人员，受训人员和受影响的家庭提供一个论坛，分享和讨论基础科学和临床问题，以制定未来研究的框架，针对Ras/MAPK通路综合征的治疗和最佳临床实践的转化应用。会议的一些目标是：1）与Ras/MAPK综合征患者见面，了解他们的能力和挑战，2）了解致病突变如何改变蛋白质功能，以及这如何有助于疾病的发病机制，3）激励临床医生和临床研究人员考虑结果指导，综合征特异性管理，4）激励Ras和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综合征的应用。MAPK通路抑制剂作为可能的全身治疗。我们将通过正式介绍临床途径和网络以及RAS病的分子发病机制，RAS途径的基础生物学，动物模型，治疗方案和临床试验的讨论来实现这些目标。我们将在最后一天利用工作组为未来的临床前和临床研究联盟建立明确的议程。最后，我们将通过青年研究员竞赛和海报展示会鼓励学员和初级教师的参与。

DESCRIPTION (provided by applicant): International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Finding Our Way Back to the Bedside will be held on July 22-24, 2011 in Chicago, IL at the Westin O'Hare. The PI and Co-Chair of this research symposium is Bruce D. Gelb, MD from the Mount Sinai School of Medicine. Amy Roberts, MD from Harvard Medical School and Ms. Lisa Schoyer, past-President of the Costello Syndrome Family Network (CSFN) serve as Co-Chairs. This meeting will be held in conjunction with family meetings of the CSFN, CFC International, Noonan Syndrome Support Group, and neurofibromatosis support groups. A class of developmental disorders caused by dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway has emerged. These syndromes, including Noonan, LEOPARD, Costello, cardio-facio-cutaneous and neurofibromatosis , have overlapping phenotypic features including facial dysmorphia, cardiovascular anomalies, musculoskeletal and cutaneous abnormalities, neurocognitive delay and cancer. Germline mutations causing these disorders alter Ras/MAPK pathway proteins. The elaboration of the genetic bases of these syndromes is allowing researchers to explore their pathogeneses. Our ultimate goals are to develop better medical management and establish novel therapies. The overall goal of this symposium is to provide a forum for clinicians, researchers, trainees and affected families to share and discuss basic science and clinical issues in order to set forth a framework for future research, translational applications directed towards therapy and best clinical practices for Ras/MAPK pathway syndromes. Some objectives of the meeting are to 1) meet individuals with Ras/MAPK syndromes and learn of their capacities and challenges, 2) learn how causative mutations alter protein function and how this contributes to disease pathogenesis, 3) inspire clinicians and clinical researchers to consider outcomes-guided, syndrome-specific management, 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 therapies. We will achieve these goals through formal presentations on clinical pathways and networks as well as on the molecular pathogeneses of the RASopathies, basic biology of the RAS pathway, animal models, treatment options and a discussion of clinical trials. We will use working groups on the final day to establish clear agendas for future pre-clinical and clinical research consortia. Finally, we will encourage participation of trainees and junior faculty through a Young Investigator Competition and a poster presentation session.