1st Costello Syndrome Symposium

描述(由申请人提供)：本申请请求支持题为“2007年首届国际科斯特洛综合征研究研讨会”的科学会议。本次会议将于2007年7月21日在俄勒冈州波特兰市俄勒冈健康与科学大学多恩贝赫儿童医院的Marion L.Miller礼堂举行。本次会议的首席研究员和联席主任是加州大学旧金山分校的凯瑟琳·A·劳恩博士和医学博士。组织和内容支持将由科斯特洛综合征家庭网络(CSFN)主席兼研究专题讨论会联合主任Lisa Schoyer女士和CSFN董事会成员兼2007年CSFN会议主席Dawn MacReady-Santos女士提供，该会议将与研究专题讨论会同时举行。 Costello综合征(CS)是一种复杂的发育障碍，包括特征性的头面部特征、发育迟缓、心脏和骨骼异常，以及易发生肿瘤，包括良、恶性。本次研讨会将聚焦于CS的最新、令人兴奋的分子进展，包括因果基因HRAS的发现，以及针对这类患者的临床研究和未来的治疗选择。首次为科斯特洛综合征的遗传基础研究奠定了坚实的基础，将使基础科学研究人员和临床医生开始了解其发病机制。反过来，这将导致更好的治疗和可能的治疗。本次研讨会的总体目标是为研究人员、临床医生和内科科学家提供一个开放的论坛，以分享和讨论基础科学和临床问题，为未来的研究、针对治疗的翻译应用和CS患者的最佳实践提供坚实的框架。由于在CS儿童中可以看到广泛的表型效应，通过这次研讨会使基础科学和临床研究正规化，不仅有助于深入了解癌症的病因和进展，而且还有助于理解这种基因如何参与正常人类发育的调节。会议的具体目的是1)会见CS患者并了解他们的能力；2)了解HRAS的致病突变如何改变蛋白质功能以及这种变化如何有助于CS的发病机制；3)启发临床医生和临床研究人员考虑对临床问题的具体证候处理；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CS的临床方面；5)开始正式讨论RAS信号通路调节剂的应用，作为CS患者的系统治疗方法；以及6)开始承诺研究研讨会将成为每两年举行一次的国际Costello综合征家庭会议的组成部分。参与者将包括生物化学、生物信息学和分子遗传学领域的基础科学家，以及来自畸形学、心脏病学、内分泌学、神经学、肿瘤学和发育学科的临床研究人员。听众将包括临床医生、基础科学家、内科科学家、倡导领袖、实习生、学生和家庭，他们都对CS有潜在的兴趣。将特别注意初级调查人员、受训人员(医学/研究生、博士后和研究员)以及来自代表性不足社区的临床医生和科学家的参与。

DESCRIPTION (provided by applicant): This application requests support for the scientific meeting entitled, "1st International Costello Syndrome Research Symposium 2007". This meeting will be held on July 21, 2007 at the Marion L. Miller Auditorium at Doernbecher Children's Hospital, Oregon Health and Science University, Portland, OR. The principal investigator and co-director of this meeting is Katherine A. Rauen, Ph.D., M.D., of the University of California San Francisco. Organizational and content support will be provided by Ms. Lisa Schoyer, President of the Costello Syndrome Family Network (CSFN) and co-director of the research symposium, and Ms. Dawn Macready-Santos, CSFN Board Member and Chair of the 2007 CSFN meeting to be held concurrently with the research symposium. Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies, and a predisposition to develop neoplasia, both benign and malignant. This symposium will focus on recent, exciting molecular advances in CS including the discovery of the causal gene, HRAS, as well as clinical research and future therapy options for this population of patients. For the first time, a solid foundation for the study of the genetic basis of Costello syndrome will allow basic science researchers and clinicians to begin to understand its pathogenesis. This, in turn, will lead to better treatment and possible therapy. The overall goal of this symposium is to provide an open forum for researchers, clinicians, and physician-scientists to share and discuss basic science and clinical issues setting forth a solid framework for future research, translational applications directed towards therapy and best practices for individuals with CS. Because of the wide phenotypic effect seen in children with CS, formalization of basic science and clinical research through this symposium will not only help gain insight into the cause and progression of cancer, but also into the understanding of how such a gene is involved in the regulation of normal human development. The specific aims of the meeting are 1) meet individuals with CS and learn of their capacities, 2) learn how causative mutations in HRAS alter protein function and how this alteration may contribute to the pathogenesis of CS, 3) inspire clinicians and clinical researchers to consider syndrome specific management of clinical issues, 4) inspire basics science researchers in the Ras and related fields to apply their basic science knowledge to the clinical aspects of CS, 5) begin a formal discussion in the application of Ras pathway modulators as possible systemic therapy for CS individuals, and 6) inaugurate a commitment to research symposia to be an integral part to the bi-annual International Costello Syndrome Family Conferences. The participants are to include basic scientists in the fields of biochemistry, bioinformatics, and molecular genetics, as well as, clinical investigators from disciplines in dysmorphology, cardiology, endocrinology, neurology, oncology, and development. The audience will consist of clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and families, all of whom share an underlying interest in CS. Special attention will be paid to the involvement of junior investigators, trainees (medical/graduate students, post docs and fellows) and clinicians and scientists from underrepresented communities.