6th International RASopathies Symposium:
Precision Medicine – From Promise to Practice
August 2-4, 2019
Delta Hotels by Marriott
Baltimore Hunt Valley, MD
Karen W. Gripp, MD, Director of the RASopathies Research Program at Nemours duPont Hospital for Children
Nancy Ratner, PhD, Co-Director of the RASopathy Program at Cincinnati Children’s Hospital
RASopathies are a group of systemic disorders related by molecular genetic causes and similar characteristics. They include neurofibromatosis type 1 (NF1), Noonan and Noonan-like syndromes (NS), Costello (CS) and cardio-facio-cutaneous (CFC) syndromes, among others. These syndromes have overlapping features of varying severity including facial dysmorphology; neurocognitive impairment; cardiovascular, musculoskeletal, cutaneous, and gastrointestinal problems; predisposition to cancer, and pain.
The RASopathies have a profound impact on quality of life for affected individuals and family members, and require mobilizing considerable resources for ongoing medical care. Significantly, family and patient advocates are real-world experts who have been transformed by these conditions. This symposium will provide unique scientific coordination and access to affected families, as well as an opportunity for affected individuals to directly interact with researchers working on their respective condition.
In aggregate, the prevalence of RASopathy syndromes is estimated to be 1/1000. The public health impact associated with altered Ras/ERK signaling is tremendous. The Ras/ERK pathway is also critical for cancer biology, given that somatic pathway mutations are observed in one third of human malignancies. There is much to learn and to be creative about in bringing together what we know about the germline RASopathies and the somatic Ras/ERK tumors.
Our sixth biennial meeting will bring together clinicians, researchers, genetic counselors, trainees, biopharma scientists, and affected RASopathy families to share and discuss:
(i) diagnostic and clinical issues
(ii) new research results and clinical trial findings
(iii) progress in translational applications and therapeutic pipelines
(iv) readiness for future clinical trials, and
(v) best practices to help individuals with a RASopathy syndrome
Advances in basic Ras biology and clinical diagnostics have highlighted the broad impact of dysfunctional Ras signaling in cellular networks and in the human population. Accordingly, the growing number of genes/mutations associated with RASopathies creates the need for frequent communication and strategizing among stakeholders to discuss how to define a RASopathy (e.g., molecularly, clinically, etc.), and how best to identify and treat the individual disorders. The application of precision medicine holds promise for addressing these questions and is the focus of this meeting.
- Inform affected families/individuals about the evolving definition of a RASopathy, the underlying biology, and current research on RASopathies
- Engage participating professionals about the experience of living with a RASopathy
- Present and discuss basic and clinical findings on recently identified genes, cellular functions, and inhibitors of Ras/ERK signaling
- Discuss phenotypes and clinical assessments associated with RASopathies towards the development of standardized, quantitative clinical trial endpoints
- Learn about related syndromes that could fall under the RASopathy umbrella and discuss how to support members of the community with new or rare molecular pathogenic findings and clinical phenotypes
- Provide opportunities for networking and encourage trainees from diverse backgrounds to become investigators of RASopathies
- Provide junior investigators a platform to share their research and opportunities to know the community of patients, doctors, and senior researchers
- Update meeting participants on pre/perinatal diagnostic services, findings, and management
- Disseminate knowledge gleaned from the meeting to both the scientific community and lay public
This symposium will be held in conjunction with the Costello Syndrome Family Network (CSFN) family conference.