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