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

第八届国际 RASopathies 研讨会：通过全球合作和宣传扩大研究和护理实践

• 批准号: 10683644
• 负责人: Lisa Schoyer
• 金额: $ 3.1万
• 依托单位: RASOPATHIES NETWORK USA
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-05-01 至 2024-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10683644
• 关键词: Advertisements; Advocacy; Advocate; Affect; Awareness; Behavior; Behavioral; Brain; Caring; Cells; Clinical; Clinical Trials; Collaborations; Colorado; Communities; Complex; Congenital Disorders; Defect; Development; Diagnostic; Disease; Doctor of Philosophy; Drug Targeting; Event; Face; Family; Funding; Future; Genotype; Glean; Grant; Health; Hearing; Human; Human Genetics; Hybrids; Hypertrophic Cardiomyopathy; Individual; Infant; International; Intervention Trial; Knowledge; Learning; Legius syndrome; Logistics; MEKs; Malignant Neoplasms; Medical; Mentors; Metabolic Diseases; Metabolism; Minnesota; Mission; Modeling; Molecular; Neurofibromatosis 1; Neurologic; Neurosciences; Noonan Syndrome; Oncology; Parents; Pathogenicity; Pathway interactions; Patients; Persons; Pharmacologic Substance; Phenotype; Pre-Clinical Model; Predisposition; Productivity; Quality of life; Rare Diseases; Ras/Raf; Research; Research Personnel; Resources; Role; Scholarship; Science; Scientist; Side; Signal Pathway; Signal Transduction; Support Groups; Syndrome; System; Talents; Therapeutic; Time; Travel; Treatment Protocols; Underrepresented Populations; Universities; Update; Veterans; Woman; body system; cardiofaciocutaneous syndrome; case finding; clinical care; cohort; drug discovery; experience; falls; family burden; feeding; fetal; gastrointestinal; improved; insight; meetings; multidisciplinary; neurodevelopment; novel; patient advocacy group; pediatric cardiologist; people of color; posters; postnatal development; pre-clinical; professor; social; symposium; virtual

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.

项目概要 RAS-RAF-MEK-ERK 信号通路失调是导致一大群人类先天性疾病的原因 统称为 RASopathies 的综合征，其共同的致病机制是 RAS/ERK 升高 信号传导和重叠的临床特征。 RAS 病综合征属于一系列不同的疾病， 多系统并发症反映了 RAS 信号传导在整个过程中的重要和广泛的作用 发展。家庭的医疗、经济和社会负担可能是巨大的。一些 RASopathies（例如 Costello、心面皮肤、Legius 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。稀有物的研究 疾病需要纳入广泛的专业知识和合作伙伴网络，以达到生产力的临界规模 见解。为了加深对所有 RASopathies 的了解，我们寻求资金来召开第八届国际会议 RASopathies 研讨会：通过全球合作和扩大研究和护理实践 宣传活动是一项混合型虚拟/现场活动，将于 2023 年 7 月 21 日至 23 日在科罗拉多州丹佛市举行。预计采用这种形式 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 RAS 病家庭受到影响。本次研讨会与其他研讨会不同 高度跨学科、以科学为中心、包容倡导者和家庭，并且与 靶向肿瘤学或 RAS 相关药物发现会议。家长倡导者组织委员会， 学术和临床主席由三名女性和两名有色人种组成。多元化的主讲人群体， 小组成员和主持人，包括早期研究人员，将聚集在一起讨论（i）生活质量问题， (ii) 最近的临床进展，(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，(vi) 当前的治疗前景和药物发现的进展，(vii) 基因型-表型相关性，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群体和新的调查人员，以增加人才库 建立国际研究人员网络，使更广泛的科学界和 RASopathies 受益 社区。需要资金支持组织者和演讲者的旅行/住宿、奖学金 优秀摘要被选中进行展示的受训者/早期研究人员，以及 实施混合会议后勤。