2023 Symposium Agenda

8th International RASopathies Symposium:
Expanding Research and Care Practice
through Global Collaboration and Advocacy

July 21-23, 2023
In-Person and Virtual Meeting
Denver Marriott Tech Center, Denver, Colorado

DRAFT Agenda as of March 6, 2023

duration schedule description speaker/moderator
1h30m FRIDAY


Opening Night Dessert Reception and Presentations: Self-Advocacy Success Stories to Stimulate Discussion on Improving QoL    Moderator: Michelle Ellis, Noonan UK


Welcome and Mixer; ESI meet-up

Meeting Organizers and Chairs

Living and thriving with a BRAF RASopathy

Christine & Gigi Sevilla, Chicago, IL

20m MyMejo.com – An app to manage my child’s medically complex care Ryan Sheedy, Bentonville, AL



1h50m Sat 8:00-9:50am

1: Clinical Session: Awareness of Clinical Indications & Recent Progress

Moderator: Karen Gripp, MD, Nemours Children’s Hospital, Wilmington, DE


Hematological indications in RASopathies: Need for more research and education

Benjamin Briggs, MD PhD, Rady Children’s Hospital, Navy Medical Center San Diego, CA


Patient stratification and MEKi therapy for JMML

Elliot Stieglitz, MD, UCSF Benioff Children’s Hospital, CA


Cell cycle defects underlie NS-associated cardiomyopathy suggesting potential new mechanisms

Cordula Wolf, MD, German Heart Center, Technical University of Munich, School of Medicine & Health, Munich, DEU


Systemic approach to feeding difficulties, vomiting, and failure to thrive in NS spectrum disorders

Dagmar Tiemens, PhD candidate & parent advocate, Radboud UMC, Nijmegen, NLD


MEKi Treatment effects and QoL in diverse patients with NF1 tumors

Christopher Moertel, MD, University of Minnesota Medical Center, Minneapolis, MN


ESI Selected Abstract


10m Sat 9:50-10:00am


1h30m Sat 10:00-11:30am

2: Neuro Session: Neurodevelopmental Focus- From Brain to Behavior

Moderator: Rene Pierpont, PhD LP, University of Minnesota, Minneapolis, MN


Structural correlates of brain function, ADHD, ASD in RASopathies

Tamar Green, MD, Stanford Medicine, Stanford, CA


Information processing in NSSDs: correlation with genotype and social cognitive intervention approach for adults with Noonan syndrome

Renee Roelofs, PhD & Ellen Wingbermühle, PhD, Van Gogh Institute for Psychiatry, Venray, NLD, Donders Institute, Radboud University, Nijmegen, NLD


Telehealth intervention to support social skill development in adolescents with NF1

Bonnie Klein-Tasman, PhD, University of Wisconsin, Milwaukee, WI


Social behavioral phenotypes in a Spred1 knockout mouse RASopathy model, impact of MEKi

Sarah C Borrie, PhD, KU Leuven, Leuven, BEL


ESI Selected Abstract


45m Sat 11:30-12:15pm


1h15m Sat 12:15-1:30pm

3: Poster Session: Learning from each other

 Families, Advocates, Scientists, Doctors, Industries

1h30m Sat 1:30-3:00pm

4: Physiology Session: Causes and Impacts of Disordered Metabolism and Energy Homeostasis

Moderator: Gregor Andelfinger, MD PhD, CHU-Sainte Justine, Montreal, Quebec, CAN


Probing GI abnormalities in RASopathies using hiPSCs

Maria I Kontaridis, MD PhD, MMRI, Utica, NY


Bioenergetics in RASopathies: Mitochondrial homeostasis (CS models)

Rodrigue Rossignol, PhD, Bordeaux University, FRA


Dysregulated lipid metabolism and mitochondrial activity contribute to RASopathy pathophenotype

Ion C Cirstea, PhD, Ulm University, Ulm, DEU


Costello and CFC syndrome cohorts, metabolic profiling and bone homeostasis

Chiara Leoni, MD, Fondazione Policlinico Universitario A. Gemelli IRCCS, ITA


ESI Selected Abstract

10m Sat 3:00-3:15pm


1h15m Sat 3:15- 4:30pm

5: Molecular Session: Advances in Drug Discovery

Moderator: Pau Castel, PhD, NYU Grossman School of Medicine, New York, NY


Exploring drug candidates in RASopathies using bioinformatic integration of data from drug screening, transcriptomics, and gene regulatory networks

Daochun Sun, PhD, Medical College of Wisconsin, Milwaukee, WI


Discovery of new therapies for hypertrophic cardiomyopathy in RASopathies using an innovative hiPSC-based high-throughput drug screening platform and cardiac organoids

Fabrice Jaffré, PhD, Weill Cornell Medicine, New York, NY


Advancing therapeutic leads that selectively rescue Raf1 and BRAF phenotypes in fly and hiPS-derived CM hypertrophy

Bruce Gelb, MD, Icahn School of Medicine at Mount Sinai, New York, NY


ESI Selected Abstract


10m Sat 4:30-4:45pm


1h Sat 4:45-5:45pm

6: Discussion Panel 1: Current Treatment Landscape and New Therapeutic Developments

Moderator: Anton M. Bennett, PhD, Yale School of Medicine, New Haven, CT


Topics: Proteomics, Pathway inhibitors (MEK, SHP2, Pan-RAS/RAF), Paradoxical Circuit Breakers, Trials

Panelists: Forest White, PhD, MIT, Boston, MA;

Gregor Andelfinger, MD PhD, CHU-Sainte Justine, Montreal, CAN; Add’l TBD

1h Sat 6:30-8:00pm

Networking dinner




50m Sun 8:30-9:20am

7: Genetic Session: Genotype-Phenotype Correlations

Moderator: Katherine A. Rauen, MD, PhD, UC Davis, CA


Understanding RASopathies expression signatures to better inform diagnosis and treatment

Vanessa Fear, BSc (Hons), PhD, University of Western Australia, Perth, AUS


NCI Advancing RAS/RASopathies Therapies Project Natural History Study Update

Gina Ney, MD PhD, NIH, Bethesda, MD


ESI Selected Abstract


10m Sun 9:20 – 9:30am


1h Sun 9:30-10:30am

8: Keynote 


Building and maintaining multinational rare disease networks/collaborations

Martin Zenker, MD, Institute of Human Genetics, University Hospital Magdeburg, DEU

1h Sun 10:30-11:30am

9: Discussion Panel 2: Global Perspectives and Collaborations

Moderator: Pilar Magoulas, MS CGC, Houston, TX


Topics: Syndrome Commonalities across Ethnicities,

International Collaborations in Practice,

Standards, Guidelines, and Updates for RASopathies Diagnosis and Treatment,

Establishing Collaboration among Advocacy Networks,

Modeling Euro NS Clinical Practice Surveys

Panelists: Rene Pierpont, PhD, LP, UMinn, MN

Carlos Prada, MD, Lurie Children’s, Chicago, IL

Paul Kruszka, MD, MPH, GeneDx, Gaithersburg, MD

Emma Burkitt-Wright, MBChB PhD MRCP, Manchester Ctr Genomic Medicine, UK

10m 11:30-11:45am

Closing Remarks

1h Sun 11:45am-4pm

Symposium Summary Sessions:

1h  Sun 11:45am-1:00pm

for CFC Families – Hosted by CFC International

Katherine A. Rauen, MD, PhD; Rene Pierpont, PhD, LP; Pilar Magoulas, MS, CGC

1h Sun 11:45am-12:45pm

for CS Families – Hosted by CSFN

Karen Gripp, MD; Suma Shankar, MD, PhD; David Stevenson, MD

1h Sun 1:00-2:00pm

for NS, NSML Families – Hosted by Noonan Syndrome Foundation and Noonan Syndrome Association

Bruce Gelb, MD; Tamar Green, MD, PhD

1h  Sun 12:00-4:00pm

for NF1 Families – Hosted by NF Network

Bruce Korf, MD, PhD; Annette Bakker, PhD