6th International RASopathies Symposium:
Precision Medicine – From Promise to Practice
PRELIMINARY Agenda
Friday, August 2 to Sunday, August 4, 2019
Download .pdf HERE
Note: Items in purple are designed for families to participate along with clinicians and researchers
| 2h | F 8-10pm | Dessert Reception and Poster Session | |
| 8:00-8:15pm | Welcome Remarks | Karen Gripp, MD, Nemours/AI duPont Hospital for Children Nancy Ratner, PhD, Cincinnati Children’s Hospital Medical Center Lisa Schoyer, Lisa Schill, Elisabeth Parker, and Beth Stronach, RASopathies Network |
|
| 1hr | SA 7:00-8:00am | Breakfast | |
| 20m | SA 8:00-8:20am | Introductory Remarks: The RASopathies Umbrella | Katherine A. Rauen, MD, PhD, UC Davis, CA |
| 1h 45m | SA 8:20-10:05am | 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 | Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination and signaling | Anna Sablina, PhD VIB-KU Leuven Center for Cancer Biology, Leuven, Belgium |
| 15m | 8:50-9:05 | The SHOC2-MRAS-PP1 complex: Molecular Details and Pathway Function | Pablo Rodriguez-Viciana, PhD, University College, London, UK |
| 15m | 9:05-9:20 | PPP1CB – Phenotypic Overlap with RASopathies | Karen Gripp, MD, Nemours/AI duPont Hospital for Children |
| 15m | 9:20-9:35 | Biology of SYNGAP1-related Neurodevelopmental Disorders: Should They Be Considered RASopathies? | Gavin Rumbaugh, PhD, Scripps Research Institute, FL |
| 15m | 9:35-9:50 | SYNGAP1 – Phenotypic Overlap with RASopathies | Jimmy Holder, MD, Baylor College of Medicine, TX |
| 15m | 9:50-10:05 | Discussion over Coffee | |
| 1h 15m | SA 10:05am-11:25am | Session 2: New Functions of RASopathy Genes | Moderator: Emma Burkitt-Wright, MD, PhD, NHS Foundation Trust, Manchester, UK |
| 15m | 10:05-10:20 | Metabolic Effects in Mouse Model of Costello Syndrome | Shin-ichi Inoue, PhD, Tohoku U School of Medicine, Japan |
| 25m | 10:20-10:45 | Targeting SHP2 for Neurofibromatosis and Other Malignancies | Ben Neel, PhD, NYU Langone Med Ctr, NY |
| 25m | 10:45-11:10 | Structural and functional analysis of neurofibromin and SPRED1 | Frank McCormick, PhD FRS DSc, UCSF, CA |
| 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 “Was This in the Plan?” | |
| 1h 35m | SA 1:30-3:05pm | Session 3: Therapeutic Inhibitors | Moderator: Bill Timmer, NCI (CTEP) |
| 20m | 1:30-1:50 | Cancer Driven by HRAS: Tipifarnib Clinical Trial Results | Alan L. Ho, MD PhD, MSKCC, NYC |
| 20m | 1:50-2:10 | Functional Endpoints on the SPRINT Study | Andrea Gross, MD, NCI Center for Cancer Research (CCR) |
| 15m | 2:10-2:25 | Low-Dose Dasatinib for Cardiomyopathy in Noonan Syndrome | Anton Bennett, PhD, Yale, CT |
| 20m | 2:25-2:45 | Drugging RAS from Multiple Angles | Darryl McConnell, PhD, Boehringer-Ingelheim, Austria |
| 15m | 2:45-3:05 | Discussion over Coffee | |
| 2h | SA 3:10-5:15pm | Session 4: Potential Endpoints for Clinical Trials in Rasopathies | Moderator: Nancy Ratner, PhD, Cincinnati Children’s Hospital |
| The Brain in RASopathies | |||
| 15m | 3:10-3:25 | Post-Natal Immune Activation and Its Role In Adult Phenotypes in a RASopathy Model | Manuel López-Aranda, 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 | Bridging the gaps in our knowledge: brain development of children with Noonan syndrome. | Tamar Green, PhD, Stanford University, CA |
| 15m | 3:55-4:10 | Neuroimaging of RASopathies in the newborn and yound child | Susan Blaser, MD FRCP, Hospital for Sick Children, Toronto, Canada |
| Cardiac Function in RASopathies | |||
| 15m | 4:10-4:25 | iPSC-derived cardiomyocytes reveal aberrant ERK5 and MEK1/2 signaling concomitantly promote hypertrophic cardiomyopathy in RAF1-associated Noonan Syndrome | Maria Kontaridis, PhD, Masonic Medical Research Lab, Utica, NY |
| 15m | 4:25-4:40 | Unraveling the Cause of Developmental Disease Using Zebrafish: MAP4K4 Truncations as a Potential Cause of RASopathies | Rebecca Burdine, PhD, Princeton, NJ |
| 30m | 4:40-5:10 | Discussion | |
| 2h | SA 6:00-8:00pm | NETWORKING DINNER or CSFN Family Dinner | |
| 1hr | SU 7:00-8:00am | Breakfast | |
| 50m | SU 8:00-8:50am | Session 5: Prenatal Findings, Manifestations, Diagnosis and Management | Moderator: Pilar Magoulas, MS CGC, Baylor College of Medicine, TX |
| 40m | 8:00-8:40 | Panelists: | Sandra Darilek MS CGC, Baylor; Angie Jelin MD- MFM, Johns Hopkins |
| 10m | 8:40-8:50 | Discussion | |
| 1h 50m | SU 8:50-10:40am | Session 6: Clinical Trial Endpoints Roundtable | Moderator: Richard Klein, former Director of FDA’s Patient Liaison Program, WDC Area |
| 15m | 8:50-9:05 | PPMD: Forefront of PRO | Annie Kennedy, Parent Project Muscular Dystrophy, MD |
| 15m | 9:05-9:20 | Benefits, challenges, and strategies for incorporating patient-reported outcomes in pediatric trials for RASopathies | Pam Wolters, PhD, NCI, NIH |
| 15m | 9:20-9:35 | A prospective study of the impact of MEK1/2 inhibition on neurocognitive functioning in children and adults with NF1 | Karin Walsh, PsyD, Children’s Research Inst., WDC [NF1 REINS Consortium] |
| 30m | 9:40-10:10 | Advocates Organizations Panel | Moderator: Michelle Ellis, Noonan UK
Panelists: CFC International: Tuesdi Dyer; CSFN: Angel Thomas; CTF: Alwyn Dias; NF Network: Gregg Erikson; NSF: Amanda Brown |
| 30m | 10:10-10:40 | 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 | 10:45-11:00 | Jr Investigator Finalist 1: Modeling LZTR1 Loss-of-Function in Vivo: A Novel Noonan Syndrome Mouse Model | Pau Castel, University of California San Francisco, CA |
| 15m | 11:00-11:15 | Jr Investigator Finalist 2: Hematopoietic Defects in a Zebrafish Knock-in Model of Noonan Syndrome | Maja Solman, Hubrecht Institute, The Netherlands |
| 15m | 11:15-11:30 | Jr Investigator Finalist 3: SHP2/PTPN11 Interactions with Protein Zero Related (PZR) Promotes Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentignes (NSML) | Jae-Sung Yi, Yale, New Haven, CT |
| 15m | 11:30-11:45 | Million Dollar Bike Ride 2018 Grantee: Using a clinically approved antiemetic, Meclizine, to attenuate hyperactive RAS–MAPK signaling | Kartik Venkatachalam, PhD, UT Houston, TX |
| 15m | 11:45-12:00 | Million Dollar Bike Ride 2019 Grantee: Advancing a Novel Therapeutic Lead for the RASopathies | Bruce Gelb, MD, Mt. Sinai School of Medicine, NY |
| 15m | 12:00-12:15 | Discussion and Closing Remarks | |
| 3h30m | SU 12:30-4:00pm | Breakout Sessions | |
| 1hr | 12:30-1:30pm | Breakout for CFC Families | Pilar Magoulas, MS CGC, Dave Stevenson, MD |
| 1hr | 12:30-1:30pm | Breakout for CS Families – Hosted by CSFN | Karen Gripp, MD, Emma Burkitt-Wright, MD, PhD |
| 1hr | 12:30-1:30pm | Breakout for NS, NSML Families | Bruce Gelb, MD, Amy Roberts, MD |
| 3hr | 12:30-3:30pm | Breakout for NF1 Families – Hosted by NF Network | Bruce Korf MD, PhD, Karin Walsh PsyD, Pam Wolters PhD |
| 1hr 30m | 2:30-4:00pm | RASopathies Network Open Meeting | Board members from RASNet and other family support organizations |
071919
