Collectively, RASopathies comprise one of the largest groups of congenital disorders worldwide estimated to affect ~1:2000 individuals. RASopathies share similar features caused by aberrant activation of signals within and between cells. The proposed symposium will offer the opportunity for international researchers, doctors, advocates, and families with RASopathies to learn from each other about the genetics and organ systems affected by these conditions.
Specific Objectives for this Conference:
- Learn from people with RASopathies and their caregivers about the experience of daily living and encourage researchers to focus on their needs.
- Facilitate dialogue among clinicians who care for these individuals and bring consensus on clinical practices, including diagnosis, follow-up, and adjuvant treatment.
- Engage scientists who study the RAS/MAPK pathway and deepen understanding the mechanisms of pathogenesis of RASopathy-related variants.
- Spotlight ESIs in each session and provide time for them to meet with families and receive mentoring from experienced RASopathies researchers.
- Actively encourage diverse trainees to represent their labs by submitting posters.
- Learn how the NF community has built effective collaborations, data resources, and meaningful outreach campaigns to engage patients and ESIs.
- Raise awareness of ongoing and proposed partnerships and consortia activity involving RASopathies.
- Review progress/outcomes of projects funded by RASopathies Network Research Pilot Grants.
- Highlight emerging research themes which are understudied or rapidly changing for new insights.
- Explore the potential for application of new therapeutic molecules for NF1 and other RASopathies.
- Engage pharmaceutical companies to develop targeted trials for RASopathies therapy.
- Disseminate knowledge gained from the meeting to scientific and advocacy communities.
