6th International RASopathies Symposium:
Precision Medicine – From Promise to Practice

Friday, August 2 to Sunday, August 4, 2019


Note: Items in purple are designed for families to participate along with clinicians and researchers

duration tentative schedule description speaker/moderator
2h F 8-10pm Dessert Reception and Poster session
20m SA 8:00-8:20am Introductory Remarks: The RASopathies Umbrella Katherine A. Rauen, MD, PhD, UC Davis, CA
1h 55m SA 8:20-10:15am Session 1: Novel Mutations/Genes in the Field Moderator: Marco Tartaglia, PhD, Ospedale Pediatrico Bambino Gesu, Rome, Italy
15m 8:20-8:35 LZTR1 – Phenotypic overlap with RASopathies Martin Zenker, MD, University Hospital of Magdeburg, Germany
15m 8:35-8:50      – Schwannomatosis Phenotype Ludwine Messiaen, PhD, University of Alabama at Birmingham
15m 8:50-9:05 PPP1CB – Molecular Details and Pathway Function Pablo Rodriguez-Viciana, PhD, University College, London, UK
15m 9:05-9:20      – Phenotypic overlap with RASopathies Karen Gripp, MD, Nemours/AI duPont Hospital for Children
15m 9:20-9:35 SYNGAP1 – Molecular Details and Pathway Function Gavin Rumbaugh, PhD, Scripps Research Institute, FL
15m 9:35-9:50      – Phenotypic overlap with RASopathies Jimmy Holder Jr, MD PhD, Baylor College of Medicine, TX
25m 9:50-10:15 Discussion over Coffee
1h 05m SA 10:20am-11:25am Session 2: New functions of RASopathy Genes Moderator: Bronwyn Kerr, MD, NHS Foundation Trust, Manchester, UK
30m 10:20-10:50 Oxidation of Ras/MAPK pathway proteins Ben Neel, PhD, NYU Langone Med Ctr, NY
20m 10:50-11:10 Metabolic effects in mouse model of Costello syndrome Yoko Aoki, MD, PhD, Tohoku U School of Medicine, Japan
15m 11:10-11:25 Discussion
50m SA 11:25am-12:15pm KEYNOTE: The inhibitor landscape and Ras signaling feedback loops Neal Rosen, PhD, MSKCC, NYC
1h SA 12:20-1:20pm LUNCH – Presentation: Steph Nimmo, author of “Was This in the Plan?”
1h 35m SA 1:30-3:05pm Session 3: Therapeutic Inhibitors Moderator: Bill Timmer, NCI
15m 1:30-1:45 Thyroid Cancer driven by HRAS: Tipifarnib Clinical Trial Results James Fagin, PhD, MSKCC, NYC
15m 1:45-2:00 Advancing Rasopathies Therapy: Tipifarnib treatment for Costello syndrome Andrea Gross, MD, NCI POB
15m 2:00-2:15 Dasatinib for Cardiomyopathy in Noonan syndrome Anton Bennett, PhD, Yale, CT
15m 2:15-2:30 Tipifarnib trials and ERK inhibitors Antonio Gualberto, MD, PhD, Chief Medical Officer, Kura Oncology
15m 2:30-2:45 Exchange Factor Inhibitors Clive Long, PhD, Boehringer-Ingelheim, Germany
20m 2:45-3:05 Discussion over Coffee
2h SA 3:10-5:15pm Session 4: Potential Endpoints for Clinical Trials in Rasopathies Moderator: Bruce Gelb, MD, Mt. Sinai School of Medicine, NY
The Brain in RASopathies
15m 3:10-3:25 Mouse Models – Neuronal Dysfunction in Rasopathy Brains Alcino Silva, PhD, UCLA, CA
15m 3:25-3:40 Antioxidant Testing in Preclinical Models and Rasopathy Patients Carlos Prada, MD, Cincinnati Children’s Hospital
15m 3:40-3:55 Findings in MRI Studies for Cognitive Function: Noonan syndrome brains Tamar Green, PhD, Stanford University, CA
15m 3:55-4:10 Neonates with RASopathies: a Case-Controlled Study Susan Blaser, MD FRCP, Hospital for Sick Children, Toronto, Canada
Cardiac Function in RASopathies
15m 4:10-4:25 Molecular Mechanisms of Cardiovascular Difficulties in RASopathies Patients Maria Kontaridis, PhD, Masonic Medical Research Lab, Utica, NY
15m 4:25-4:40 Insights from model organisms Rebecca Burdine, PhD, Princeton, NJ
30m 4:40-5:10 Discussion
or CSFN Family Dinner (must register with CSFN)
45m SU 8:00-8:45am Session 5: Panel & Discussion: Prenatal Session- Dx, Findings, Management Moderator: Pilar Magoulas, MS CGC, Baylor College of Medicine, TX
35m Panelists: TBD Sandra Darilek CGC (Baylor), MFM Geneticist? Children’s National – THREE US people
10m Discussion
2h SU 8:45-10:45am Session 6: Clinical Trial Endpoints Roundtable Moderator: Richard Klein, former Director of FDA’s Patient Liaison Program, WDC Area
30m [RASopathies Families Voice/Involvement] TBD – Four Panelists
15m Lessons from Hunter Syndrome Clinical Trials Melissa Hogan, Parent, Hunter Syndrome, TN
15m PPMD: Forefront of PRO Annie Kennedy, Parent Project Muscular Dystrophy, MD
15m PRO Validations with the FDA
Pam Wolters, PhD, NCI, NIH
15m Cognitive Evaluation of the Effects of Selumetinib in NF1 Karin Walsh, PsyD, Children’s Research Inst., WDC
30m Discussion
1h 30m SU 10:45am-12:15pm Session 7: Junior Investigators, MDBR Grantees, Closing Comments Moderator: Amy Roberts, MD, Harvard Medical School, Boston Children’s Hospital
15m Junior Investigator Finalist 1 Presentation TBD prior to Symposium
15m Junior Investigator Finalist 2 Presentation TBD prior to Symposium
15m Junior Investigator Finalist 3 Presentation TBD prior to Symposium
15m Million Dollar Bike Ride 2018 Grantee Presentation Kartik Venkatachalam, PhD, UT Houston, TX
15m Million Dollar Bike Ride 2019 Grantee Presentation TBD
15m Discussion and Closing Remarks
3h 30m SU 12:30-4:00pm Breakout Sessions
1hr 12:30-1:30pm Breakout for CFC Families Pilar Magoulas, MS CGC, Suma Shankar MD, Dave Stevenson, MD
1hr 12:30-1:30pm Breakout for CS Families – Hosted by CSFN Karen Gripp, MD and Bronwyn Kerr, MBBS
1hr 12:30-1:30pm Breakout for NS, NSML Families Bruce Gelb, MD and Amy Roberts, MD
TBD TBD Breakout for NF1 Families – Hosted by NF Network Brigitte Widemann, MD, Bruce Korf MD
1hr 30m 2:30-4:00pm RASopathies Network Open Meeting Board members from RASNet and other family support organizations