4th International RASopathies Symposium
July 17-19, 2015
Doubletree by Hilton at SeaTac
This symposium will provide a venue for a scientific conversation between clinicians, researchers, trainees and affected families to share and discuss clinical issues and basic science and set forth a framework for future research, translational applications directed towards therapy, and best clinical practices for RAS/MAPK pathway syndromes.
Alterations of the RAS/MAPK transduction pathway cause changes in proliferation and differentiation of many cell types. An important biologic pathway with broad developmental impact, this pathway is critical to cancer biology as somatic RAS/MAPK mutations are observed in ~30% of malignancies. In recent years there has been a dramatic increase in identified germline mutations in genes within the RAS/MAPK pathway resulting in developmental disorders called RASopathies. RASopathies represent one of the largest groups of genetic syndromes (prevalence ~1/1000). These syndromes include neurofibromatosis type 1 (NF1), Noonan, multiple lentigines (i.e. LEOPARD), Costello, cardio-facio-cutaneous (CFC), and Legius syndromes. They have overlapping phenotypic features, including cancer, facial dysmorphia, neurocognitive impairment, pain, and cardiovascular, musculoskeletal, gastrointestinal, and cutaneous abnormalities. Elaboration of the genetic bases of these syndromes can lead researchers to explore their pathogeneses with hope for translation of information across syndromes and to the general population given the broad impact of this pathway.
Families are also invited to participate in a number of events at no cost:
- the Friday night Dessert Reception and Poster Session
- the Saturday photo shoot with Rick Guidotti
- the Sunday morning presentation of Rick’s photos
- the Sunday break-out session for families to learn what was shared at the symposium from the perspective of each of the four syndromes: CFC, Costello, NF1 and Noonan
- Meet people with RASopathies to encourage researchers to focus on their needs.
- Inform RASopathies families about current science and plans.
- Discuss and concur how the RAS/MAPK pathway affects cellular homeostasis.
- Stimulate cross-talk between clinicians who care for individuals and basic scientists who study this pathway.
- Identify candidate compounds to be considered for clinical trials in RASopathies.
- Understand infrastructure needs to develop preclinical testing and clinical trials for RASopathies.
- Disseminate knowledge gleaned from the meeting to both the scientific and lay public.
- Identify appropriate and achievable endpoints for therapeutic trials.
- Attract, develop, and encourage trainees from diverse backgrounds to become investigators of RASopathies.
- Attract and inform pharmaceutical companies to develop targeted trials for RASopathies therapy.
- Enhance translation of knowledge from the RASopathies to the general population (e.g. cancer, osteoporosis, learning disabilities).
Scientific Advisory Board
- Bruce Gelb, MD, Mt. Sinai Medical Center, NY
- Karen Gripp, MD, Nemours/duPont Hospital for Children, Wilmington, DE
- Amy Roberts Kenney, MD, Children’s Hospital, Boston, MA
- Bruce Korf, MD, PhD, University of Alabama, Birmingham, AL
- Katherine A. Rauen, MD, PhD, University of California, Davis, CA
- Alcino Silva, PhD, University of California, Los Angeles, CA
- David Stevenson, MD, Stanford University, CA
Advocates’ Advisory Board
- Chair: Lisa Schill, RASopathies Network USA
- Cardio-facio-cutaneous syndrome:
- Ilse Levins, CFC International
- Kyle Stowell, CFC International
- Costello syndrome:
- Colin Stone, International Costello Syndrome Support Group (ICSSG)
- Tammy Moore, Costello Syndrome Family Network (CSFN)
- Neurofibromatosis type 1:
- Kim Bischoff, NF Network
- Annette Bakker, PhD, Children’s Tumor Foundation (CTF)
- Noonan syndrome:
- Michelle Ellis, Noonan UK
- Ann Yurcek, Noonan Syndrome Foundation
- Noonan syndrome with multiple lentigenes (NSML)/LEOPARD syndrome:
- Tammy Bowers
- Lisa Schoyer, Principal Investigator
- Lisa Schill, Co-Investgator