2021 International RASopathies Symposium

2021年国际RASopathies研讨会

• 批准号: 10237583
• 负责人: Lisa Schoyer
• 金额: $ 2万
• 依托单位: RASOPATHIES NETWORK USA
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-06-01 至 2022-05-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10237583
• 关键词: Address; Advocate; Affect; Anniversary; Boston; COVID-19; Cardiovascular system; Caring; Case Study; Cell Survival; Cells; Clinical; Colorado; Communities; Congenital Disorders; Cutaneous; Data Analyses; Development; Diagnosis; Diagnostic; Disease; Doctor of Philosophy; Dysmorphology; Environment; European; Experimental Models; Extracellular Signal Regulated Kinases; Face; Family; Future; Genes; Genetic; Genetic Diseases; Germ-Line Mutation; Germany; Glean; Human; Human Genetics; Individual; Institutes; International; Italy; Knowledge; Learning; Logistics; Malignant Neoplasms; Medical; Medical Research; Medicine; Molecular; Molecular Genetics; Musculoskeletal; Neurocognitive; Neurocognitive Deficit; Neurofibromatosis 1; Oral; Organ; Outcome; Participant; Pathogenicity; Pathway interactions; Patients; Pediatric Hospitals; Pharmaceutical Preparations; Phenotype; Physician Executives; Physiology; Population; Predisposition; Public Health; Publications; Publishing; Quality of life; Rare Diseases; Research; Research Institute; Research Personnel; Resources; Rome; Science; Series; Severities; Signal Pathway; Signal Transduction; Somatic Mutation; Specialist; Syndrome; System; Therapeutic; Time; Tissues; United States National Institutes of Health; Universities; Variant; Visit; cancer pain; cardiofaciocutaneous syndrome; case finding; causal variant; chronic pain; developmental disease; experience; gastrointestinal; genetic counselor; inhibitor/antagonist; knowledge base; medical schools; meetings; mid-career faculty; novel; pandemic disease; posters; pre-clinical; programs; symposium; therapeutic target; therapy outcome

PROJECT SUMMARY The RAS/extracellular signal regulated kinase (ERK) pathway is essential for proliferation, differentiation and cell survival. While somatic mutations on this signaling pathway cause one third of human malignancies, germline mutations in genes affecting RAS/ERK signaling cause a group of developmental disorders termed RASopathies with overlapping phenotypic features of varying severity. While individually rare, collectively, RASopathies comprise one of the largest groups of congenital disorders worldwide affecting ~1:1000-1:2500 individuals. Hence, the public health impact associated with altered RAS/ERK signaling due to somatic and germline pathogenic variants is enormous. RASopathies include neurofibromatosis type 1 (NF1), Noonan and Noonan-like syndromes (NS, NSML, NS-LAH), Costello (CS) and cardio-facio-cutaneous (CFC) syndromes, among others. 2021 marks the 20th anniversary of the discovery of the first human RASopathy gene providing a timely backdrop to convene the 7th International RASopathies Symposium: Pathways to a Cure - Expanding Knowledge, Enhancing Research, and Therapeutic Discovery to be held in Denver, Colorado, July 23-25th, 2021. The proposed symposium will continue to build on previous programs gathering clinicians, researchers, trainees, NIH and pharma representatives, and individuals and families affected by a RASopathy. The 2.5-day program integrates family participation in a poster session, advocate keynote talk, and panel discussions, as well as hosting deep science sessions for experts to share new research findings, data analyses, and case studies across the spectrum of RASopathies. The last session will address the significant topic of therapeutic approaches, whereby stakeholders and families can learn from each other what possibilities are in development and what outcomes are most needed. The conference chairs are Maria Kontaridis, PhD, Executive Director/Director of Research at the Masonic Medical Research Institute, Utica, NY and Amy Roberts, MD, Associate Professor of Medicine at Harvard Medical School and Director of Clinical Cardiovascular Genetics at Boston Children's Hospital. Two additional co-chairs, Marco Tartaglia, PhD, Director of the Genetics and Rare Diseases Research Division, OPBG, Rome, Italy, and Martin Zenker, MD, Director of the Institute for Human Genetics at Magdeburg University Germany, are included for their input after the 2020 European meeting on RASopathy disorders was cancelled amid the pandemic. Lisa Schoyer, PI and President of RASopathiesNet, together with co-investigators Lisa Schill, RASNet Vice President, and Beth Stronach PhD, Board Secretary, will include patient advocates in planning and implementation and will manage the logistics of the symposium.

项目概要 RAS/细胞外信号调节激酶 (ERK) 通路对于增殖、分化和发育至关重要。 细胞存活。虽然这一信号通路上的体细胞突变导致了三分之一的人类恶性肿瘤， 影响 RAS/ERK 信号传导的基因种系突变会导致一组发育障碍，称为 具有不同严重程度的重叠表型特征的 RAS 疾病。虽然单独来看很少见，但总的来说， RASopathies 是全球最大的先天性疾病之一，影响范围约为 1:1000-1:2500 个人。因此，由于体细胞和细胞因子导致的 RAS/ERK 信号传导改变对公共健康产生影响。 种系致病变异是巨大的。 RAS 病包括 1 型神经纤维瘤病 (NF1)、Noonan 和 努南样综合征（NS、NSML、NS-LAH）、科斯特洛（CS）和心面皮肤（CFC）综合征， 除其他外。 2021 年是第一个人类 RAS 病基因发现 20 周年 召开第七届国际 RASopathies 研讨会的及时背景：治愈之路 - 扩展 知识、加强研究和治疗发现将于 7 月 23 日至 25 日在科罗拉多州丹佛市举行 2021 年。拟议的研讨会将继续以之前的项目为基础，聚集临床医生、研究人员、 学员、NIH 和制药代表以及受 RAS 病影响的个人和家庭。 2.5天 该计划将家庭参与海报会议、倡导者主题演讲和小组讨论结合起来， 以及为专家举办深度科学会议，分享新的研究成果、数据分析和案例 跨 RASopathies 谱系的研究。最后一场会议将讨论治疗的重要主题 利益相关者和家庭可以相互学习的方法 发展以及最需要什么成果。会议主席是 Maria Kontaridis 博士， 纽约州尤蒂卡共济会医学研究所执行董事/研究总监和艾米 罗伯茨，医学博士，哈佛医学院医学副教授兼临床主任 波士顿儿童医院心血管遗传学。另外两名联合主席 Marco Tartaglia 博士 意大利罗马 OPBG 遗传学和罕见病研究部主任 Martin Zenker 医学博士， 德国马格德堡大学人类遗传学研究所所长，他们的意见也包括在内 2020 年欧洲 RAS 病疾病会议因疫情而取消。丽莎·斯科耶，PI 和 RASopathiesNet 总裁，以及共同研究者 Lisa Schill、RASNet 副总裁和 Beth 董事会秘书 Stronach 博士将让患者权益倡导者参与规划和实施，并将 管理研讨会的后勤工作。