8th International RASopathies Symposium: Expanding Research and Care Practice through Global Collaboration and Advocacy

项目总结 RAS-RAF-MEK-ERK信号通路异常是导致人类先天性心脏病的重要原因 共同具有RAS/ERK升高致病机制的综合征统称为Rasopathies 信号和重叠的临床特征。类风湿性关节炎综合征沿着一种谱系下降， 反映RAS信号在整个过程中的基本和广泛作用的多系统并发症 发展。家庭的医疗、经济和社会负担可能是巨大的。其中一些 风湿性疾病(如Costello、心面皮肤、军团综合征)相对罕见，而Noonan 综合征和1型神经纤维瘤病估计影响1：1000-1：2500人。稀有植物的研究 疾病需要包括广泛的专业知识和合作伙伴网络，以达到生产的临界质量 洞察力。为了增进对所有Rasopathies的了解，我们寻求资金，以召开第8届国际 Rasopathies研讨会：通过全球合作和 倡导，2023年7月21日至23日在科罗拉多州丹佛市举行的混合虚拟/面对面活动。此格式是预期格式 吸引临床医生、研究人员、实习生、生物制药公司、倡导者和 来自国际社会的受风湿病影响的家庭。这次研讨会有别于其他研讨会。 通过高度多学科、以科学为重点并包容倡导者和家庭，与 有针对性的肿瘤学或RAS相关药物发现会议。家长倡导者组织委员会， 学术和临床教授，由三名女性和两名有色人种组成。不同的演讲者群体， 小组成员和主持人，包括早期调查人员，将开会讨论(I)生活质量问题， (Ii)近期临床进展；(Iii)从大脑到行为的神经发育；(Iv)代谢紊乱；(V) 喂养和胃肠道挑战，(六)治疗现状和药物发现进展，(七) 以及(Viii)全球合作和宣传。会议广告 将特别欢迎代表性不足的团体和新的调查人员增加人才库 建立一个国际研究人员网络，使更广泛的科学和Rasopathies受益 社区。申请资金以支持组织者和演讲者的旅费/住宿费，奖学金 受训人员/早期调查人员，其有价值的摘要被挑选出来介绍，以及 实施混合型会议物流。

PROJECT SUMMARY RAS-RAF-MEK-ERK signaling pathway dysregulation is responsible for a large group of human congenital syndromes collectively termed RASopathies that share a pathogenic mechanism of elevated RAS/ERK signaling and overlapping clinical features. RASopathy syndromes fall along a spectrum with variable, multisystem complications reflecting the essential and widespread role of RAS signaling throughout development. The medical, financial, and social burden on families can be substantial. Some of the RASopathies (e.g., Costello, cardiofaciocutaneous, Legius syndromes) are relatively rare, whereas Noonan syndrome and Neurofibromatosis type 1 are estimated to affect 1:1000-1:2500 people. The study of rare diseases necessitates inclusion of broad expertise and partner networks to reach critical mass for productive insights. To advance understanding of all RASopathies, we seek funding to convene the 8th International RASopathies Symposium: Expanding Research and Care Practice through Global Collaboration and Advocacy, a hybrid, virtual/in-person event in Denver, Colorado on July 21-23, 2023. This format is expected to attract the greatest participation of clinicians, researchers, trainees, biopharma companies, advocates, and affected RASopathy families from the international community. The symposium is distinguished from others by being highly multidisciplinary, science-focused and inclusive of advocates and families, and distinct from targeted oncology or RAS-associated drug discovery meetings. The organizing committee of parent advocates, academic and clinical chairs, consists of three women and two people of color. A diverse group of presenters, panelists, and moderators, including early-stage investigators, will convene to discuss (i) quality of life issues, (ii) recent clinical progress, (iii) neurodevelopment from brain to behavior, (iv) disordered metabolism, (v) feeding and gastrointestinal challenges, (vi) current therapeutic landscape and advances in drug discovery, (vii) genotype-phenotype correlations, and (viii) global collaborations and advocacy. Conference advertisements will specifically welcome underrepresented groups and new investigators to increase the talent pool from which to build an international network of researchers, benefitting the broader scientific and RASopathies communities. Funds are requested to support travel/lodging for organizers and speakers, scholarships for trainees/early-stage investigators whose meritorious abstracts are selected for presentation, and implementation of the hybrid conference logistics.