Draft Agenda
PDF as of June 2025
* = Penn Orphan Disease Center Million Dollar Bike Ride RASopathies Research Grant Awardee; bold = Early stage investigator/Trainee
| duration | schedule | description | speaker/moderator |
| Friday 7:00-9:00pm |
Opening Night Dessert Reception – Posters and Keynote | ||
| 15m | 7:00-7:15pm | Welcome & Awards | Pau Castel, Tamar Green, Lisa Schoyer, Beth Stronach |
| 1h | 7:15-8:15pm | Poster Session | |
| 45m | 8:15-9:00pm | Keynote 1: Progress on NF1- Insights for RASopathies | Jaishri Blakeley, MD / Johns Hopkins |
| 1h | Saturday 7:30-8:30am |
Breakfast | |
| Saturday 8:30-10:30am |
I-Systems 1: Feeding and Gastrointestinal Function
Moderator: Katherine A. Rauen, MD, PhD / UC Davis |
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| 10m | 8:30-8:40am | Family perspective | Lindsey Homan / NS Foundation |
| 20m | 8:40-9:00am | Pediatric gastrointestinal neuromodulation: applications & implications | Khalil El-Chammas, MD, MS / Cincinnati Children’s |
| 20m | 9:00-9:20am | Intestinal organoid system to study rare pediatric intestinal disorders | Abdul Ekadri, MD / Medical College Wisconsin |
| 20m | 9:20-9:40am | Assessment and treatment of pyloric dysfunction in children with chronic nausea and vomiting | John Fortunato, MD / Lurie Children’s |
| 20m | 9:40-10:00am | Metabolic profiling in NF1 | Miriam Bornhorst, MD / Lurie Children’s |
| 20m | 10:00-10:20am | Feeding avoidance in RASopathies | Keir Shiels, MD & Angharad Roberts MD, PhD/ GOSH, London |
| 10m | 10:20-10:30am | Do children with a RASopathy and avoidant/restrictive food intake disorder benefit from cognitive behavioral therapy? | Dagmar Tiemens, MSc, MScEd / Radboud UMC |
| 20m | 10:30-10:50am | Break | |
| Saturday 10:50am-12:20pm |
II-Systems 2: Neurodevelopment, Brain, and Behavior
Moderator: Tamar Green, MD / Stanford |
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| 10m | 10:50-11:00am | Family perspective | CFC family |
| 20m | 11:00-11:20am | Mechanism of learning disability associated with RASopathies | Yong-Seok Lee, PhD / Seoul National University College of Medicine |
| 20m | 11:20-11:40am | Perspectives of caregivers and young adults with RASopathies on neurodevelopmental and mental health care | Rene Pierpont, PhD / University of Minnesota Medical School |
| 10m | 11:40-11:50am | ESI Selected Abstract: T1w/T2w ratio as an indicator of cortical myelin content in children with RASopathies | Julia Plank, PhD / Division of Interdisciplinary Brain Sciences, Stanford |
| 10m | 11:50am-12:00pm | ESI Selected Abstract: Academic Achievement in Youth with Noonan Syndrome, Spectrum, and Related Disorders | Sara Pardej, PhD / Stanford University School of Medicine |
| 10m | 12:00-12:10pm | Selected Abstract: Sleep Disorders and their Management in Patients with RASopathies | Nicole Weaver, MD/ Cincinnati Children’s Hospital Medical Center |
| 10m | 12:10-12:20pm | Selected Abstract: Molecular and circuit mechanisms of visual hypersensitivity in mice modeling NF1 | J. Elliott Robinson, MD PhD / Cincinnati Children’s Hospital Medical Center |
| 1h30m | Saturday 12:20-2:00pm |
Lunch and Poster Session Redux | |
| Saturday
2:05-3:25pm |
III-Systems 3: Cardiovascular and Lymphatic Function
Moderator: *Bruce D. Gelb, MD / Mount Sinai |
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| 10m | 2:05-2:15pm | Family perspective | Tammy Bowers / NS Foundation |
| 20m | 2:15-2:35pm | Novel mechanisms of PTPN11 signaling in Noonan syndrome | Anton Bennett, PhD / Yale School of Medicine |
| 20m | 2:35-2:55pm | Outcomes of MEKi treatment for cardiac and lymphatic complications | Kathryn Chatfield, MD PhD / Children’s Hospital Colorado |
| 20m | 2:55-3:15pm | Precision medicine for RASopathy vascular anomalies | Sarah E. Sheppard, MD PhD MSTR / NICHD |
| 10m | 3:15-3:25pm | ESI Selected Abstract: Mitochondrial Dysfunction in Costello Syndrome: Uncovering Potential Therapeutic Approaches for RASopathies | Cristina Nuevo-Tapioles, PhD / NYU Grossman School of Medicine |
| 30m | 3:25-3:55pm | Break | |
| Saturday
3:55-5:15pm |
IV-RASopathies Genetics
Moderator: Karen Gripp, MD / Nemours |
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| 10m | 3:55-4:05pm | Family perspective | Chuck Lawson, Father of a child with HINCONS |
| 20m | 4:05-4:25pm | Paternal age effects and selfish spermatogonial selection | Anne Goriely, PhD / Oxford |
| 20m | 4:25-4:45pm | Prenatal RASopathies: diagnostic yields, genotype-phenotype correlations, and recommendations for testing | Alessandro De Luca, PhD / IRCSS-Fondazione Casa Sollievo della Sofferenza |
| 20m | 4:45-5:05pm | Evolving genetic landscape of RASopathies | Marco Tartaglia, PhD / Ospedale Pediatrico Bambino Gesù |
| 10m | 5:05-5:15pm | ESI Selected Abstract: Genetic activation of ERK2 produces a unique neurodevelopmental phenotype that recapitulates core clinical features of MAPK1-related Rasopathy | Kassidy Grover / Cincinnati Children’s Hospital Medical Center, U Cincinnati College of Medicine |
| 1h15 | 5:15-6:30pm | Free Time | |
| 2h | 6:30-8:30pm | Networking Dinner | |
| 1h | Sunday 7:00-8:00am |
Breakfast | |
| Sunday
8:00-10:00am |
V-Predisposition to Malignancy
Moderator: Marielle Yohe, MD PhD / NCI |
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| 10m | 8:00-8:10am | Family perspective | TBD |
| 20m | 8:10-8:30am | T cell involvement in NF1 tumorigenesis | Nancy Ratner, PhD / Cincinnati Children’s |
| 20m | 8:30-8:50am | Natural History of Non-NF1 RASopathies | Gina Ney, MD PhD / CGB DCEG, NCI |
| 20m | 8:50-9:10am | Cancer in Costello syndrome | Doug Stewart, MD / CGB DCEG, NCI |
| 20m | 9:10-9:30am | Melanocytic Nevi and Melanoma | Maija Kiuru, MD PhD / UC Davis |
| 20m | 9:30-9:50am | open | |
| 10m | 9:50-10:00am | ESI Selected Abstract | TBD |
| 15m | 10:00-10:15am | Break | |
| Sunday
10:15-12:45pm |
VI-Therapeutic Pipeline
Moderator: Pau Castel, PhD / NYU Langone |
||
| 45m | 10:15-11:00am | Keynote 2: | Frank McCormick, PhD FRS / UCSF |
| 20m | 11:00-11:20am | Outlook for MEKi trial for Ras-associated HCM | *Bruce D. Gelb, MD / Mount Sinai |
| 50m | 11:20am-12:10pm | Panel: Industry POV & Pipelines | Novartis, Think Biosciences |
| 35m | 12:10-12:45pm | Discussion | McCormick, Blakely, Gelb, Industry Representatives |
| 5m | 12:45pm | Closing Remarks | Pau Castel, Tamar Green, Beth Stronach, Lisa Schoyer |
| Sunday Starting at/after 1pm |
Symposium Summary Sessions: | ||
| for CFC Families – Hosted by CFC International | Rene Pierpont, Suma Shankar |
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| for CS Families – Hosted by CSFN | Dave Stevenson, Karen Gripp |
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| for NS, NSML Families – Hosted by Noonan Syndrome Foundation (NSF) and Noonan Syndrome Association (NSA) | Bruce Gelb | ||
Remember to register for the symposium – here for easy reference: https://www.eventbrite.com/e/9th-international-rasopathies-symposium-tickets-1287948200739
