2023 Symposium Home Page

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

July 21-23, 2023
In-Person and Virtual Meeting
Denver Marriott Tech Center, Denver, Colorado

Gregor Andelfinger, MD, PhD, CHU-Sainte Justine, Montreal, Canada
Anton Bennett, PhD, Yale University, New Haven, CT, USA
Rene Pierpont, PhD, University of Minnesota, Minneapolis, MN, USA

Lisa Schoyer, MFA, Principal Investigator
Beth Stronach, PhD, Co-Investigators

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.

These syndromes are characterized by distinct facial features, short stature, predisposition to cancer, and variable defects in nearly all the major body systems reflecting widespread requirements for proper RAS signaling throughout fetal and postnatal development. RASopathies fall along a spectrum. For some, having a RASopathy may impart a profound impact on quality of life, requiring mobilization of considerable resources for ongoing medical care. Affected families and patient advocates are real-world experts who have been transformed by these conditions.

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.

Specific Objectives for this Conference:

  • Hear from people with RASopathies about the experience of daily living and encourage researchers to focus on their needs.
  • Raise awareness of patient advocacy groups that support RASopathy syndromes around the world.
  • Stimulate dialogue among clinicians who care for individuals, scientists who study this pathway, and advocates who wish to introduce issues and advance research.
  • Spotlight early-stage investigators in each session and provide time for them to participate in meet-ups with families and receive mentoring from veteran RASopathies researchers.
  • Actively encourage trainees from diverse backgrounds to represent their labs by submitting posters.
  • Learn how to navigate building effective collaborations and larger cohorts, which is especially relevant for rare RASopathies.
  • Feature updates on projects funded by RASopathies Network Research Pilot Grants.
  • Discuss emerging research themes that provide insight into complex RASopathies indications.
  • Understand the (side)effects of MEKi treatment in NF1 and other RASopathies.
  • Engage pharmaceutical companies to develop targeted trials for RASopathies therapy.
  • Disseminate insights gleaned from the meeting to scientific and advocacy communities.

Heartfelt Thanks to Our Partner Family Organizations: