Expanding Research and Care Practice through Global Collaboration and Advocacy
Dysregulation of cellular RAS-RAF-MEK-ERK signaling is not only responsible for a third of all human cancers; it underlies a large group of human genetic syndromes collectively termed RASopathies.
RASopathies include neurofibromatosis type 1 (NF1), Noonan and Noonan-like syndromes (NS, NSML, NS-LAH), Costello (CS) and cardio-facio-cutaneous (CFCS) syndromes, among others. They share a pathogenic mechanism of elevated RAS/ERK signaling and overlapping clinical features. While individually rare, together RASopathies comprise one of the largest groups of congenital disorders worldwide estimated to affect ~1:1000- 1:2500 individuals.
The RASopathies Network’s patient/family advocate-driven model gathers diverse stakeholders to discuss cutting edge science, current gaps in knowledge, and future milestones, toward improving health and bringing treatments to people with RASopathies. We distinguish this symposium from others by being highly multidisciplinary, science-focused and inclusive of advocates and families, while being distinct from meetings that convene to discuss oncology or RAS-targeted drug discovery.
The hybrid in-person-and-virtual format is designed to encourage the greatest participation of clinicians, researchers, genetic counselors, trainees, biopharma representatives, advocates, and affected RASopathy families from the international community. The proposed agenda highlights (i) new research results and case findings, (ii) diagnostic and clinical best practices, (iii) progress in preclinical and therapeutic pipelines, (iv) global collaborations and diverse patient cohorts in anticipation of interventional trials, and (v) experiences of living with a RASopathy and self-advocacy. The symposium is expected to provide unique access to affected families, as well as an opportunity for affected individuals to directly interact with researchers who are working on their respective conditions.