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


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

30m  In-Person/Virtual

Welcome and Mixer; ESI meet-up

Meeting Organizers and Chairs
20m In-Person/Virtual

Living and thriving with a BRAF RASopathy

Christine and Gigi Sevilla, Chicago, IL

20m In-Person/Virtual Managing Noonan syndrome as an adult April Anschutz, Austin, TX
  20m In-Person/Virtual Innovating better solutions to manage my child’s medically complex care Ryan Sheedy, Bentonville, AR



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

20m In-Person/Virtual

Hematological indications in RASopathies: Need for more research and education

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

20m In-Person/Virtual

Targeting the Ras/MAPK pathway in JMML with trametinib

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

20m  Virtual

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

20m In-Person/Virtual

A molecular hypothesis to solve feeding problems, a substantial problem in RASopathy patients

Dagmar Tiemens, PhD candidate & parent advocate, Radboud University Medical Center, Nijmegen, The Netherlands

20m In-Person/Virtual

MEKi treatment effects and QoL in diverse patients with NF1 tumors

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

10m Virtual

ESI Selected Abstract:
Hypertrophic neuropathy in children with Noonan syndrome and related disorders experiencing pain in their legs

Fieke Draaisma, Radboud University Medical Center, Nijmegen, The Netherlands

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

20m  In-Person/Virtual

Intersecting Neuroscience and Genetics: Utilizing Multivariant Brain Analysis for Understanding Genetic Mutations and Neuropsychiatric Outcomes in Children with Noonan Syndrome

Tamar Green, MD, Stanford Medicine, Stanford, CA

20m Virtual

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, The Netherlands

20m In-Person/Virtual

Telehealth intervention to support social skill development in adolescents with NF1

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

20m In-Person/Virtual

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

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

10m In-Person/Virtual

ESI Selected Abstract:
Brain-restricted somatic variants activating RAS-MAPK signaling cause focal drug resistant epilepsy

Sattar Khoshkhoo, MD, Brigham and Women’s Hospital, Boston, MA

45m Sat 11:30-12:15pm

Lunch & Poster Session: Learning From Each Other

1h15m Sat 12:15-1:30pm

3: Poster Session continues: 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

20m  Virtual

Using inducible pluripotent stem cells to delineate the molecular mechanisms that cause gastrointestinal difficulties in RASopathy patients

Maria I Kontaridis, PhD, MMRI, Utica, NY

20m In-Person/Virtual

Bioenergetics in RASopathies: Mitochondrial homeostasis (CS models)

Rodrigue Rossignol, PhD, Bordeaux University, FRA

20m Virtual Adipose tissue atrophy in Costello syndrome – intrinsically dysregulated gene expression augmented by stressor

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

20m  In-Person/Virtual

Costello syndrome: bone homeostasis and metabolic profiling

Chiara Leoni, MD, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, ITA, and Elisabetta Flex, PhD, Istituto Superiore di Sanità, Rome, ITA

10m  In-Person/Virtual

ESI Selected Abstract:
Vosoritide improves growth in children with Noonan syndrome

Nadia Merchant, MD, Children’s National Hospital, Washington, DC
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

20m  In-Person/Virtual

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

20m  In-Person/Virtual

Molecular mechanisms and potential therapeutic strategies for RIT1-driven Noonan syndrome

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

20m  In-Person/Virtual

Advancing novel therapies for the RASopathies using cell and animal models

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

10m In-Person/Virtual

ESI Selected Abstract:
Investigation of cardiac valve disease mechanisms in Noonan syndrome with an iPSC model

Clifford Z. Liu, MD/PhD candidate, Icahn School of Medicine at Mount Sinai, New York, NY

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, USA; Gregor Andelfinger, MD PhD, CHU-Sainte Justine, Montreal, CAN; Mark Kieran, MD, PhD, VP Clinical Development, Day One Biopharmaceuticals, Philadelphia, PA, USA

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

20m  Virtual

Understanding RASopathies expression signatures to better inform diagnosis and treatment

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

20m  In-Person/Virtual

Updates on the NCI RASopathies Natural History Study and Preliminary Genome-First Results

Megan Frone, MS, CGC, NIH/NCI, Bethesda, MD

10m  In-Person/Virtual

ESI Selected Abstract:
Myocardial tissue engineering: A powerful tool to study hypertrophic cardiomyopathy in RIT1F82L/+-associated Noonan syndrome and its potential treatment by trametinib in vitro

Karolin Kleemann, University Medical Center Goettingen, Germany

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 – Virtual

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; Bonnie Klein-Tasman, PhD; Christopher Moertel, MD