1st Costello Syndrome Symposium

第一届科斯特洛综合症研讨会

• 批准号: 7278088
• 负责人: Katherine Anna Rauen
• 金额: $ 4.6万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-05-10 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7278088
• 关键词: Advocate; Attention; Basic Science; Benign; Biochemistry; Bioinformatics; California; Cardiac; Cardiology; Characteristics; Child; Clinical; Clinical Investigator; Clinical Management; Clinical Research; Communities; Complex; Costello syndrome; Development; Developmental Delay Disorders; Discipline; Doctor of Medicine; Doctor of Philosophy; Dysmorphology; Endocrinology; Failure to Thrive; Family; Foundations; Future; Genes; Genetic; Goals; HRAS gene; Health Sciences; Human Development; Individual; International; Knowledge; Lead; Learning; Malignant - descriptor; Medical; Molecular; Molecular Genetics; Mutation; Neoplasms; Neurology; Oregon; Participant; Pathogenesis; Pathway interactions; Patients; Pediatric Hospitals; Physicians; Population; Postdoctoral Fellow; Predisposition; Principal Investigator; Regulation; Request for Applications; Research; Research Personnel; San Francisco; Scientist; Skeletal system; Solid; Students; Syndrome; Systemic Therapy; Time; Translational Research; Universities; base; c-Ha-ras p21; craniofacial; developmental disease; direct application; insight; interest; member; oncology; protein function; symposium; tumor progression

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.

描述（由申请人提供）：本申请请求支持题为“2007 年第一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 Doernbecher 儿童医院的 Marion L. Miller 礼堂举行。本次会议的主要研究者和联合主任是加州大学旧金山分校的 Katherine A. Rauen 博士、医学博士。 Costello 综合征家庭网络 (CSFN) 主席兼研究研讨会联合主任 Lisa Schoyer 女士和 CSFN 董事会成员兼 2007 年 CSFN 会议主席 Dawn Macready-Santos 女士将提供组织和内容支持与研究研讨会同期举行。 Costello 综合征 (CS) 是一种复杂的发育障碍，涉及特征性颅面特征、发育迟缓、发育迟缓、心脏和骨骼异常以及发生良性和恶性肿瘤的倾向。本次研讨会将重点关注 CS 领域最近令人兴奋的分子进展，包括致病基因 HRAS 的发现，以及针对该患者群体的临床研究和未来治疗选择。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，使基础科学研究人员和临床医生能够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、临床医生和医师科学家提供一个开放的论坛，分享和讨论基础科学和临床问题，为未来的研究、针对治疗的转化应用和针对患有此病的个人的最佳实践奠定坚实的框架。 CS。由于在 CS 儿童中观察到广泛的表型效应，通过本次研讨会将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，而且有助于了解此类基因如何参与癌症的发生。人体正常发育的调节。会议的具体目标是 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改变如何促进 CS 的发病机制，3) 激励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其基础科学知识应用于 CS 的临床方面，5) 开始正式讨论 Ras 通路调节剂作为可能的全身治疗的应用对于 CS 个人，以及 6) 开始致力于研究研讨会，使其成为两年一度的国际科斯特洛综合症家庭会议的一个组成部分。参与者包括生物化学、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、肿瘤学和发育学等学科的临床研究人员。观众将包括临床医生、基础科学家、医师科学家、倡导者领导者、学员、学生和家庭，他们都对计算机科学有着潜在的兴趣。将特别关注初级研究者、实习生（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。