5th International RASopathies Symposium

5th International RASopathies Symposium

July 28-30, 2017
Renaissance Orlando

Chairs: Katherine A. Rauen, MD, PhD, and Frank McCormick, PhD, FRS, DSc (Hon)
Investigators: Lisa Schoyer, PI, Lisa Schill, Co-PI, and Beth Stronach, PhD, Co-PI

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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, with the aim to set forth a framework for future research, translational applications directed towards therapy, and best clinical practices for individuals with a genetic syndrome of the Ras/mitogen activated protein kinase (MAPK) pathway.

The goal of this meeting is to bring about a better understanding of the developmental roles that the Ras/MAPK pathway plays, toward better medical management and promising therapies for the RASopathy syndromes.

The RASopathies are a group of medical genetic syndromes that are caused by germline mutations in genes that encode components, both positive and negative factors, of the Ras/MAPK pathway. Together, the RASopathies represent a common group of neurodevelopmental syndromes affecting greater than 1 in 1000 individuals. These syndromes, which share many overlapping phenotypic characteristics, include:

  • neurofibromatosis type 1 (NF1)
  • Noonan syndrome (NS)
  • NS with multiple lentigines (NSML)
  • Legius syndrome
  • Costello syndrome (CS)
  • cardio-facio-cutaneous syndrome (CFC)
  • capillary malformation-arteriovenous malformation syndrome (CMAVM)
  • autosomal dominant intellectual disability type 5

The Ras pathway controls essential cell behaviors, many of which have been studied in the context of cancer, but which are also required for normal embryo development. So, it is not surprising that uncontrolled Ras pathway signaling leads to serious problems in fetal and child development, in addition to predisposing affected individuals to cancer.

Meeting objectives:

  1. To hear from various individuals/families with different RASopathies to encourage researchers and bring attention to understudied concerns
  2. To inform families with RASopathies about progress in scientific research, model systems, and candidate compounds to be considered for clinical trials
  3. To review the current definition of a RASopathy and discuss how to accommodate new molecular findings and clinical phenotypes/diagnoses
  4. To stimulate cross-talk between clinicians who care for individuals and basic scientists who study this pathway
  5. To discuss how the Ras/MAPK pathway affects cellular homeostasis
  6. To review state-of-the-art techniques to monitor Ras pathway activity in real time and computational approaches to identify systems-level effects of unregulated Ras pathway
  7. To disseminate knowledge gained from the meeting to both the scientific community and lay public
  8. To encourage trainees from diverse backgrounds to become investigators of RASopathies
  9. To engage pharmaceutical companies to develop targeted trials for RASopathies therapy
  • To enhance transfer of knowledge from the RASopathies to allied fields of inquiry (e.g. cancer, osteoporosis, learning disabilities)

Families are also invited to participate in a number of events:

  • the Friday night Dessert Reception and Poster Session, July 28, 2017 (no cost)
  • the Saturday photo shoot with Rick Guidotti (no cost)
  • Rick Guidotti’s lunch presentation [click here for cost] [lunch: $28 per adult, $14 per child (6-12); free for children under age 6).  The first 52 parents’ lunch expense will be covered by the Monica Grund Memorial Fund
  • the Saturday Lunch and Learn presentation by Rick Guidotti, Positive Exposure, partially funded by the Monica Grund Fund
  • the Sunday break-out sessions for families to learn what was shared at the symposium from the perspective of each of the four syndromes: CFC, Costello, NF1 and Noonan (no cost)

This symposium is scheduled to overlap with the Costello Syndrome Family Conference.

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:
    • Les Brown, CFC International
    • Kyle Stowell, CFC International
  • Costello syndrome:
    • Colin Stone, International Costello Syndrome Support Group (ICSSG)
    • Cherie Takemoto, 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
    • Rebekah , Noonan Syndrome Foundation

Investigators

  • Lisa Schoyer, Principal Investigator
  • Lisa Schill, Co-Investgator
  • Beth Stronach, Co-Investigator