2021 International RASopathies Symposium

项目总结 RAS/细胞外信号调节激酶(ERK)通路是细胞增殖、分化和细胞外信号转导的重要途径。 细胞存活。虽然该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信号转导的基因的胚系突变导致一组称为 具有不同严重程度的重叠表型特征的Rasopathy。虽然个别情况很少见，但总体来说， Rasopathy是世界上最大的先天性疾病之一，影响约1：1000-1：2500 个人。因此，由于躯体和其他原因引起的RAS/ERK信号改变对公共健康的影响 生殖系致病变异是巨大的。风湿性疾病包括1型神经纤维瘤病(NF1)、Noonan和 Noonan样综合征(NS、NSML、NS-LAH)、Costello(CS)和心面部皮肤(CFC)综合征， 还有其他的。2021年是第一个人类类风湿病基因发现20周年。 召开第七届国际Rasopathies研讨会的及时背景：治疗的途径--扩展 知识、加强研究和治疗发现将于7月23-25日在科罗拉多州丹佛市举行， 2021年。拟议的研讨会将继续建立在以前项目的基础上，聚集了临床医生、研究人员、 受训人员、美国国立卫生研究院和制药公司代表，以及受风湿病影响的个人和家庭。2.5天 该计划在海报会议、倡导者主题演讲和小组讨论中整合了家庭参与，如 以及为专家举办深度科学会议，以分享新的研究成果、数据分析和案例 对Rasopathies的各种研究。最后一次会议将讨论重要的治疗主题 方法，通过这种方法，利益相关者和家庭可以相互学习 发展以及最需要什么成果。会议主席是玛丽亚·孔塔里迪斯博士、 纽约尤蒂卡和艾米共济会医学研究所执行董事/研究主任 罗伯茨，医学博士，哈佛医学院医学副教授兼临床主任 波士顿儿童医院的心血管遗传学。另外两位联席主席，马尔科·塔塔利亚博士， OPBG遗传学和罕见疾病研究部主任，意大利罗马，Martin Zenker，MD， 德国马格德堡大学人类遗传学研究所所长，作为他们的输入 在2020年欧洲类风湿疾病会议因大流行而被取消后。丽莎·斯科耶，少年派 和RASopathiesNet总裁，以及联合调查员Lisa Schill，RASNet副总裁和Beth 董事会秘书斯特罗纳赫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。

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.