Draft Agenda
As of 8/10/2024
** = Penn Orphan Disease Center Million Dollar Bike Ride RASopathies Research Grant Awardee; bold = Early stage investigator
| 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 |
| Saturday | Breakfast | ||
| Saturday 8:30-10:30am |
I-Systems 1: Feeding and Gastrointestinal Function
Moderator: TBD |
||
| 10m | 8:30-8:40am | Family perspective | Dagmar Tiemens / Radboud UMC |
| 20m | 8:40-9:00am | Pediatric gastrointestinal neuromodulation | 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 | Botox Improves Chronic Nausea and Vomiting in Children with Disorder of Gut-Brain Interaction | 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 PhD & Danielle Lambert, Consultant Clinical Psychologist / GOSH, London |
| 10m | 10:20-10:30am | ESI Selected Abstract | TBD |
| 20m | 10:30-10:50am | Break | |
| Saturday 10:50am-12:10pm | II-Systems 2: Neurodevelopment, Brain, and Behavior
Moderator: Tamar Green, MD PhD / Stanford |
||
| 10m | 10:50-11:00am | Family perspective | TBD |
| 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 treatments | Rene Pierpont, PhD / University of Minnesota Medical School |
| 20m | 11:40am-12:00pm | Sensory processing, autism and adhd in NF1 | **Jonathan Payne, DPsych / Murdoch Children’s Research Institute |
| 10m | 12:00-12:10pm | ESI Selected Abstract | TBD |
| 1h30m | Saturday 12:15-1:45pm |
Lunch and Poster Session Redux | |
| Saturday
1:45-3:25pm |
III-Systems 3: Cardiovascular and Lymphatic Function
Moderator: **Bruce D. Gelb, MD / Mount Sinai |
||
| 10m | 1:45-1:55pm | Family perspective | Erin Gibson and/or Tammy Bowers |
| 20m | 1:55-2:15pm | Topic TBD | Anton Bennett, PhD / Yale |
| 20m | 2:15-2:35pm | HCM organoid models for high-throughput screens | **Fabrice Jaffre, PhD / Monash University |
| 20m | 2:35-2:55pm | Outcomes of MEKi treatment for cardiac and lymphatic complications | Katherine Chatfield, MD PhD / Children’s Hospital Colorado |
| 20m | 2:55-3:15pm | Preclinical zebrafish models for vascular and lymphatic disorders | Sarah E. Sheppard, MD PhD MSTR / NICHD |
| 10m | 3:15-3:25pm | ESI Selected Abstract | TBD |
| 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 | TBD |
| 20m | 4:05-4:25pm | Paternal age effects and selfish spermatogonial selection | Anne Goriely, PhD / Oxford |
| 20m | 4:25-4:45pm | Variant-phenotype correlations in RASopathies | 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 | TBD |
| 1h15 | 5:15-6:30pm | Free Time | |
| 2h | 6:30-8:30pm | Networking Dinner | |
| Sunday | Breakfast | ||
| Sunday
8:00-10:00am |
V-Predisposition to Malignancy
Moderator: Marielle Yohe, MD PhD / NCI |
||
| 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 | Mosaicism to Cancer Continuum | Christian Kratz, MD / Hannover Medical School |
| 20m | 9:30-9:50am | Melanocytic Nevi and Melanoma | Maija Kiuru, MD PhD / UCDavis |
| 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 | **Gregor Andelfinger, MD PhD / CHU Sainte-Justine |
| 55m | 11:20am-12:15pm | Panel: Industry POV & Pipelines | Rev Med, Boehringer Ingelheim, Novartis, Alexion, Springworks |
| 30m | 12:15-12:45pm | Discussion | McCormick, Blakely, Andelfinger, Industry Reps |
| 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 | |||
| for CS Families – Hosted by CSFN | |||
| for NS, NSML Families – Hosted by Noonan Syndrome Foundation (NSF) and Noonan Syndrome Association (NSA) | |||
| for NF1 Families – Hosted by NF Network | |||
