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

项目总结

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.