6th International RASopathies Symposium: Precision Medicine - from Promise to Practice

项目摘要 影响Ras/细胞外信号调节激酶（ERK）信号传导的基因中的种系突变导致 综合征性疾病统称为“RASopathies”。总的来说，RAS病的患病率， 包括1型神经纤维瘤病（NF 1）、努南综合征（NS）、NS伴多发性雀斑样痣（NSML）、军团菌病（Legius 综合征、Costello综合征（CS）和心-面-皮肤综合征（CFC）等，至少 约1/1000，是神经发育障碍的最大群体之一。由于共同的病因， Ras/ERK信号转导失调，这些综合征表现出重叠的表型表现， 大多数（如果不是全部的话）主要器官系统，包括神经认知障碍;心血管，肌肉骨骼， 皮肤和胃肠道问题;易患癌症和疼痛。RASopathies有一个 对受影响个人和家庭的生活质量产生深远影响，需要动员相当多的 持续的医疗资源。 第六届国际RASopathies研讨会：精准医疗-从承诺到实践，将举行 2019年8月2日至4日，在马里兰州亨特谷的万豪三角洲酒店，将召集临床医生，研究人员，生物制药 科学家、受训人员、家庭团体和受RAS病影响的个人。我们的目标是分享和 讨论新的科学和临床发现，发展社区知识基础，鼓励新的研究人员 关注RAS病患者面临的问题，并为未来的临床前研究制定患者知情的策略， 研究和临床试验利用了在开发抑制剂方面取得的实质性进展， Ras/ERK驱动的癌症。该计划的议程将包括一个海报会议，科学口头报告， 小组讨论、交流机会和共享膳食。通过这种方式，研讨会提供了独特的 科学家、临床医生和受影响家庭在典型临床环境之外进行互动的机会。 参与者和与会者将合作描述Ras相关疾病的负担， 管理，并计划在不久的将来的治疗进展。 会议主席是Karen W。Gripp，医学博士，Nemours的RASopathies研究项目主任 杜邦儿童医院和Nancy Ratner博士，辛辛那提RASopathy项目的联合主任 儿童医院RASopathies网络组织的领导人，丽莎Schoyer，MFA（PI），丽莎Schill，BS （Co-I）和Beth Stronach博士（Co-I）是家长倡导者，将帮助组织和管理会议 物流研讨会将与科斯特洛综合征家庭网络会议重叠，并提供 与患有其他RASopathies的家庭相关的节目。

PROJECT SUMMARY Germline mutations in genes affecting Ras/extracellular signal regulated kinase (ERK) signaling result in syndromic disorders collectively termed “RASopathies”. In aggregate, the prevalence of RASopathy disorders, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), NS with multiple lentigines (NSML), Legius syndrome, Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC), among others, is at least ~1/1000, comprising one of the largest groups of neurodevelopmental disorders. Given a common etiology in dysregulated Ras/ERK signaling, these syndromes display overlapping phenotypic manifestations affecting most, if not all, major organ systems and include neurocognitive impairment; cardiovascular, musculoskeletal, cutaneous, and gastrointestinal problems; predisposition to cancer, and pain. The RASopathies have a profound impact on quality of life for affected individuals and families, and require mobilization of considerable resources for ongoing medical care. The 6th International RASopathies Symposium: Precision Medicine – From Promise to Practice, to be held August 2-4, 2019 at the Marriott Delta Hotel, Hunt Valley, MD, will convene clinicians, researchers, biopharma scientists, trainees, family groups, and individuals affected by a RASopathy. The goals are to share and discuss new scientific and clinical findings, grow the community knowledge base, encourage new investigators to focus on issues facing RASopathy patients, and devise patient-informed strategies for future preclinical studies and clinical trials leveraging the substantial progress being made in the development of inhibitors for Ras/ERK-driven cancers. The program agenda will consist of a poster session, scientific oral presentations, panel discussions, networking opportunities, and shared meals. In this way, the symposium provides unique opportunities for scientists, clinicians, and affected families to interact outside of the typical clinical setting. Participants and attendees will collaborate in describing the burden of Ras-related disorders, their management, and planning for therapeutic advances in the near future. The meeting chairs are Karen W. Gripp, MD, Director of the RASopathies Research Program at Nemours duPont Hospital for Children, and Nancy Ratner, PhD, Co-Director of the RASopathy Program at Cincinnati Children's Hospital. Leaders of the RASopathies Network organization, Lisa Schoyer, MFA (PI), Lisa Schill, BS (Co-I), and Beth Stronach, PhD (Co-I) are parent advocates and will help organize and manage meeting logistics. The symposium will overlap with the Costello Syndrome Family Network conference and provide programming relevant to families with other RASopathies.