2023 Symposium Agenda

7:30-9:00pm

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

Living and thriving with a BRAF RASopathy

Christine and Gigi Sevilla, Chicago, IL

7:00-8:00am

Breakfast

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

Targeting the Ras/MAPK pathway in JMML with trametinib

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

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

MEKi treatment effects and QoL in diverse patients with NF1 tumors

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

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

Break

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

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

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

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

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

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

Lunch & Poster Session: Learning From Each Other

3: Poster Session continues: Learning from each other

Families, Advocates, Scientists, Doctors, Industries

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

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

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

Maria I Kontaridis, PhD, MMRI, Utica, NY

Bioenergetics in RASopathies: Mitochondrial homeostasis (CS models)

Rodrigue Rossignol, PhD, Bordeaux University, FRA

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

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

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

Break

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

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

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

Advancing novel therapies for the RASopathies using cell and animal models

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

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

Break

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

Networking dinner

7:30-8:30am

Breakfast

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

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

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

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

Break

8: Keynote 

Building and maintaining multinational rare disease networks/collaborations

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

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

Closing Remarks

Symposium Summary Sessions:

for CFC Families – Hosted by CFC International

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

for CS Families – Hosted by CSFN

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

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

Bruce Gelb, MD; Tamar Green, MD, PhD

for NF1 Families – Hosted by NF Network

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