Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway

描述(由申请人提供)：第三届RAS/MAPK途径的遗传综合征国际会议：迈向治疗方法将于2013年8月2-4日在佛罗里达州奥兰多海洋世界的文艺复兴奥兰多举行。本次研究研讨会的主讲人是伯明翰阿拉巴马大学的布鲁斯·R·科夫博士，共同主席是加州大学洛杉矶分校的阿尔西诺·席尔瓦博士。外交部副部长丽莎·斯科耶负责会议的后勤安排。本次会议将与CSFN、CFC International、Noonan综合征支持小组和神经纤维瘤支持小组的家庭论坛一起举行。一组发育障碍是由RAS/丝裂原活化蛋白激酶(MAPK)途径的失调引起的。这些综合征，包括Noonan、Noonan伴多颗雀斑、Costello、心面部皮肤和神经纤维瘤病1，具有重叠的表型特征，包括面部变形、心血管异常、肌肉骨骼和皮肤异常、神经认知延迟和癌症。导致这些疾病的生殖系突变改变了RAS/MAPK途径蛋白。这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，以分享和讨论基础科学和临床问题，以便为未来的研究、针对RAS/MAPK途径综合征的治疗和最佳临床实践制定一个框架。会议的一些目标是：1)会见RAS/MAPK综合征患者，了解他们的能力和挑战；2)了解RAS/MAPK途径的有害突变如何改变蛋白质功能，探索突变特异性治疗的可能机会；3)启发临床医生和临床研究人员考虑以结果为导向的针对症状的治疗；4)启发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)继续就RAS/MAPK途径抑制剂作为可能的全身疗法的应用进行正式讨论。我们将通过正式介绍Rasopathies的临床特征、RAS/MAPK途径的基本生物学、动物模型、治疗方案和临床试验来实现这些目标。我们还将探索与NCATS TRND计划和CTSA的可能关系。在最后一天，科学家和临床医生将与患者权益倡导团体会面，讨论会议上报告的发现。我们将通过青年调查员平台会议和海报展示会议鼓励实习生和初级教员参与，并为最多两名青年调查人员提供旅费。

DESCRIPTION (provided by applicant): The Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach will be held August 2-4, 2013 in Orlando, FL at the Renaissance Orlando at Seaworld. The PI of this research symposium is Bruce R. Korf, MD, PhD from University of Alabama at Birmingham; the co-chair is Alcino Silva, PhD, from UCLA. Lisa Schoyer, MFA is in charge of logistical arrangements for the meeting. This meeting will be held in conjunction with family forums of the CSFN, CFC International, Noonan Syndrome Support Group, and neurofibromatosis support groups. A group of developmental disorders is caused by dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway. These syndromes, including Noonan, Noonan with multiple lentigines, Costello, cardio-facio-cutaneous, and neurofibromatosis 1, have overlapping phenotypic features including facial dysmorphia, cardiovascular anomalies, musculoskeletal and cutaneous abnormalities, neurocognitive delay and cancer. Germ line mutations causing these disorders alter Ras/MAPK pathway proteins. 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) to meet individuals with Ras/MAPK syndromes and learn of their capacities and challenges; 2) to learn how deleterious mutations in the Ras/MAPK pathway alter protein function and to explore possible opportunities for mutation-specific therapies, 3) to inspire clinicians and clinical researchers to consider outcomes-guided, syndrome-specific management; 4) to 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) to 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 features of the RASopathies, basic biology of the RAS/MAPK pathway, animal models, treatment options, and clinical trials. We will also explore possible relationships with the NCATS TRND program and with CTSAs. On the final day, scientists and clinicians will meet with patient advocacy groups to discuss findings reported at the meeting. We will encourage participation of trainees and junior faculty through a Young Investigator platform session and a poster presentation session and provide travel funds for up two young investigators.