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

第三届Ras/MAPK途径遗传综合征国际会议

• 批准号: 8529810
• 负责人: BRUCE R KORF
• 金额: $ 2万
• 依托单位: UNIVERSITY OF ALABAMA AT BIRMINGHAM
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-05-01 至 2014-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8529810
• 关键词: Academic Medical Centers; Advocacy; Affect; Alabama; Animal Model; Applications Grants; Back; Basic Science; Biology; Cardiovascular system; Caring; Charge; Clinical; Clinical Research; Clinical Sciences; Clinical Trials; Collaborations; Costello syndrome; Cutaneous; Disease; Doctor of Philosophy; Face; Faculty; Family; Funding; Genes; Genetic; Germ-Line Mutation; Goals; Grant; Homeostasis; Individual; International; Knowledge; Learning; Malignant Neoplasms; Medical; Mitogen-Activated Protein Kinases; Molecular; Multiple Lentigines; Musculoskeletal; Mutation; Neurocognitive; Neurofibromatoses; Neurofibromatosis 1; Noonan Syndrome; Outcome; Pathogenesis; Pathway interactions; Patients; Persons; Physicians; Preclinical Testing; Proteins; Publishing; Renaissance; Reporting; Request for Applications; Research; Research Infrastructure; Research Personnel; Risk; Scientist; Solid; Support Groups; Syndrome; Systemic Therapy; Therapeutic; Therapeutics for Rare and Neglected Diseases; Translational Research; Travel; Treatment outcome; Universities; base; clinical practice; developmental disease; direct application; inhibitor/antagonist; meetings; novel; patient advocacy group; posters; programs; protein function; public health relevance; skeletal; symposium

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.

描述（由申请人提供）：第三届Ras/MAPK通路遗传同步性国际会议：迈向治疗方法将于2013年8月2日至4日在佛罗里达州奥兰多市的奥兰多海洋世界文艺复兴酒店举行。本次研讨会的PI是布鲁斯R。来自伯明翰的亚拉巴马大学的医学博士Korf;来自加州大学洛杉矶分校的Alcino Silva博士担任联合主席。外交部的丽莎舒耶负责会议的后勤安排。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。这些综合征包括努南综合征、努南综合征伴多发性雀斑样痣综合征、Costello综合征、心-面-皮肤综合征和神经纤维瘤病1型，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。生殖系突变导致这些疾病改变Ras/MAPK途径蛋白。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Ras/MAPK通路中的有害突变如何改变蛋白质功能，并探索突变特异性治疗的可能机会; 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全身治疗的应用。我们将通过正式介绍RASopathies的临床特征，RAS/MAPK通路的基础生物学，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倡导团体会面，讨论会议上报告的发现。我们将通过青年研究员平台会议和海报展示会鼓励学员和初级教师参与，并为两名年轻研究员提供差旅费。