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

项目总结 影响RAS/细胞外信号调节激酶(ERK)信号转导的基因种系突变导致 综合病症统称为“Rasopathies”。总体而言，类风湿疾病的流行， 包括1型神经纤维瘤病(NF1)、Noonan综合征(NS)、NS合并多发性豆状核变性(NSML)、军团病 综合征、科斯特洛综合征(CS)和心面部皮肤综合征(CFC)等至少是 约1/1000，构成最大的神经发育障碍组之一。给出了一个常见的病因学 RAS/ERK信号异常，这些综合征表现为重叠的表型表现，影响 大多数(如果不是全部)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 用于持续医疗护理的资源。 第六届国际Rasopathies研讨会：精准医学-从承诺到实践，将举行 2019年8月2日至4日，在马里兰州猎人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、家庭团体和受风湿病影响的个人。我们的目标是分享和 讨论新的科学和临床发现，扩大社区知识库，鼓励新的研究人员 关注类风湿性关节炎患者面临的问题，为未来的临床前制定患者知情的策略 研究和临床试验利用在开发抑制剂方面取得的实质性进展 RAS/ERK驱动的癌症。计划议程将包括海报会议、科学口头演示、 小组讨论、网络机会和分享餐点。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有机会在典型临床环境之外进行互动。 参与者和与会者将合作描述RAS相关疾病的负担，他们的 管理，以及在不久的将来治疗进展的规划。 会议主席是内穆尔Rasopathies研究项目主任Karen W.Glipp医学博士 杜邦儿童医院和南希·拉特纳博士，辛辛那提风湿病项目的联合主任 儿童医院。Rasopathies Network组织的领导人，Lisa Schoyer，MFA(PI)，Lisa 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Costello综合征家庭网络会议重叠，并提供 与患有其他Rasopathy疾病的家庭相关的节目。

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.