Draft Agenda
PDF as of July 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 | Lindsay Homan / NS Foundation, Mother of child with NS |
| 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 Elkadri, 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 School of Medicine |
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| 10m | 10:50-11:00am | Family perspective | Les Rogers / CFC International, Father of child with CFC |
| 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 / Icahn School of Medicine at Mount Sinai |
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| 10m | 2:05-2:15pm | Family perspective | Tammy Bowers / NS Foundation, Mother of child with NSML |
| 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 |
||
| 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 | Genotypes matter! How can and should we incorporate allele-specific information into clinical management guidance? | Emma Burkitt Wright, MBChB, PhD / Manchester Centre for Genomic Medicine |
| 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 7:30-8:30am |
Breakfast | |
| Sunday
8:30-10:00am |
V-Predisposition to Malignancy
Moderator: Marielle Yohe, MD PhD / NCI |
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| 10m | 8:30-8:40am | Family perspective | Lisa Schoyer / RASopathies Network, Mother of child with CS |
| 20m | 8:40-9:00am | T cell involvement in NF1 tumorigenesis | Nancy Ratner, PhD / Cincinnati Children’s |
| 20m | 9:00-9:20am | Taking Steps to Understand Rare Disease: The NCI RASopathies Natural History Study | Gina Ney, MD PhD / CGB DCEG, NCI |
| 20m | 9:20-9:40am | The Fault in Our Genes: Understanding Cancer Risk in Rare Disorders | Douglas R. Stewart, MD / CGB DCEG, NCI |
| 20m | 9:40-10:00am | Melanocytic Nevi and Melanoma | Maija Kiuru, MD PhD / UC Davis |
| 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: Molecular analysis of the RAS MAPK pathway | Frank McCormick, PhD FRS / UCSF |
| 20m | 11:00-11:20am | Outlook for clinical interventional trials in the RASopathies | *Bruce D. Gelb, MD / Icahn School of Medicine at Mount Sinai |
| 50m | 11:20am-12:10pm | Panel: Industry POV & Pipelines | Novartis, Pfizer, Think Biosciences |
| 35m | 12:10-12:45pm | Discussion | McCormick, Blakeley, 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 |
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| for CS Families – Hosted by CSFN | Dave Stevenson, Karen Gripp |
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| for NS, NSML, NSLAH Families – Hosted by Noonan Syndrome Foundation (NSF) | Bruce Gelb | ||
Remember to register for the symposium – here for easy reference: https://www.eventbrite.com/e/9th-international-rasopathies-symposium-tickets-1287948200739
Funding for this conference was made possible (in part) by 1R13TR005697-01, from the National Center for Advancing Translational Sciences (NCATS), the Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), and from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.
