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）：本申请要求对题为“ 2007年国际Costello综合症研究研讨会”的科学会议提供支持。这次会议将于2007年7月21日在俄勒冈州俄勒冈州健康与科学大学的Doernbecher儿童医院的Marion L. Miller礼堂举行。这次会议的首席研究员和联合主任是加州大学旧金山分校的凯瑟琳·A·劳恩（Katherine A. Rauen）博士。组织和内容支持将由Costello综合征家族网络（CSFN）主席兼研究研讨会的联合主任Lisa Schoyer女士，CSFN MacReady-Santos女士，CSFN董事会成员兼2007年CSFN会议主席，将与研究室共同举行。 Costello综合征（CS）是一种复杂的发育障碍，涉及特征性的颅面特征，未能繁殖，发育延迟，心脏和骨骼异常，并且倾向于发展良性和恶性肿瘤的肿瘤。该研讨会将集中在CS中最近令人兴奋的分子进步上，包括发现因果基因，HRA，以及该患者群体的临床研究和未来治疗选择。首次研究Costello综合征的遗传基础的坚实基础将使基础科学研究人员和临床医生开始理解其发病机理。反过来，这将导致更好的治疗和可能的治疗。该研讨会的总体目的是为研究人员，临床医生和医师科学家提供一个开放论坛，以共享和讨论基础科学和临床问题，为未来的研究，针对CS患者的治疗和最佳实践提供了可靠的框架。由于在CS儿童中看到了广泛的表型效应，因此通过本次研讨会对基础科学和临床研究的形式化不仅将有助于深入了解癌症的原因和进展，还可以了解对这种基因如何参与正常人类发展的调节。会议的具体目的是1）结识CS的人并了解其能力，2）了解HRAS中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的发病机理，3）激发临床医生和临床研究人员，以考虑临床问题的特定临床知识，4）启发临床方面的知识，4）在将RAS途径调节剂应用作为CS个体的系统治疗中的正式讨论中，6）致力于研究研讨会的承诺，成为两年一次的国际Costello综合征家庭会议的组成部分。参与者应在生物化学，生物信息学和分子遗传学领域中包括基础科学家，以及来自畸形，心脏病学，内分泌学，神经学，肿瘤学和发展学科的临床研究者。观众将由临床医生，基础科学家，医师科学家，倡导者，受训者，学生和家庭组成，他们在CS中都有潜在的兴趣。将特别注意初级调查人员，学员（医学/研究生，邮政学科和研究员）以及来自代表性不足的社区的临床医生和科学家的参与。