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

项目总结

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.