2021 International RASopathies Symposium

项目摘要 RAS/细胞外信号调节激酶（ERK）途径对于增殖、分化和增殖是必需的。 细胞存活虽然这种信号通路上的体细胞突变导致三分之一的人类恶性肿瘤， 影响RAS/ERK信号传导的基因中的种系突变引起一组发育障碍，称为 具有不同严重程度的重叠表型特征的RASopathy。虽然个别罕见，集体， RASopathies是世界上最大的先天性疾病之一，影响约1：1000-1：2500 个体因此，与由于体细胞和神经细胞的RAS/ERK信号传导改变相关的公共健康影响， 生殖系致病变异是巨大的。RASopathies包括神经纤维瘤病1型（NF 1），努南和 努南样综合征（NS、NSML、NS-LAH）、Costello（CS）和心-面-皮肤（CFC）综合征， 还有其他的2021年是发现第一个人类RASopathy基因20周年， 召开第七届国际RASopathies研讨会的及时背景：治愈之路-扩大 知识，加强研究和治疗发现将于7月23日至25日在科罗拉多丹佛举行， 2021.拟议中的研讨会将继续建立在以前的计划聚集临床医生，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 该计划将家庭参与纳入海报会议，倡导主题演讲和小组讨论， 并为专家举办深入的科学会议，分享新的研究成果，数据分析和案例， 对各种RASopathies的研究。最后一节课将讨论治疗的重要主题 方法，使利益攸关方和家庭可以相互学习， 发展和最需要的成果。会议主席是Maria Kontarnee博士， 共济会医学研究所执行主任/研究主任，尤蒂卡，纽约和艾米 Roberts，医学博士，哈佛医学院医学副教授，临床医学部主任 波士顿儿童医院的心血管遗传学。另外两名共同主席，Marco Tartaglia博士， 意大利罗马OPBG遗传学和罕见疾病研究部主任和Martin Zenker医学博士， 德国马格德堡大学人类遗传学研究所所长 2020年欧洲RASopathy疾病会议在大流行期间被取消。丽莎Schoyer，PI RASNet副总裁丽莎希尔和贝丝 Stronach博士，董事会秘书，将包括病人的倡导者在规划和实施，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.