Symposium Agenda

7th International RASopathies Symposium: Pathways to Understanding – Expanding Knowledge, Enhancing Research and Therapeutic Discovery

Chairs Maria Kontaridis PhD, and Amy Roberts MD
and Honorary Chairs Marco Tartaglia PhD, and Martin Zenker MD

Lisa Schoyer MFA, Principal Investigator
Lisa Schill BS, and Beth Stronach PhD Co-Investigators

July 23-25, 2021
VIRTUAL MEETING

AGENDA

 

duration schedule
(in EDT)		 description speaker/moderator
DAY 1 – FRIDAY, JULY 23, 2021 — 10am to 2pm EDT (7am to 11am PDT)
50 min 10:00-10:50am Opening Session
10:00 Welcome Remarks Chair: Maria Kontaridis PhD, MMRI, Utica, NY
10:05 Celebrating 20th Anniversary of the Discovery of PTPN11, the First RASopathy Gene Marco Tartaglia PhD, Bambino Gesù Hospital, Rome, Italy, and Bruce Gelb MD, Mount Sinai, NYC, NY
10:20 Advocate Keynote: Finding a Diagnosis & Our Voice as Advocates Elisabeth Parker BS, Yoga Instructor, Move2Advocate
(Parent of Child with NS/JMML)
10:40 Q&A Moderated by Amy Roberts MD, Boston Children’s Hospital, Boston, MA
1h 10:50-11:50am Session 1: Genes, Pathways, and Genocopies
Moderator: Katherine Rauen MD PhD, UC Davis, CA
10:50am Introduction Katherine Rauen MD PhD, UC Davis, CA
10:52am CDC42, RASA2, FBXW11, ZNF426, YWHAZ, TRAF7: Novel RASopathy genes or not? Martin Zenker MD, University of Magdeburg, Germany
11:04am Novel disease gene identification for RASopathies: where are we now? Marco Tartaglia PhD, Bambino Gesù Hospital, Rome, Italy
11:16am Noncanonical GTPases: RRAS2, RRAS, MRAS, RIT1 Yoko Aoki MD PhD, Tohoku University, Sendai, Japan
11:28am RASopathy genetic variation in biobanks Bruce Gelb MD, Mount Sinai, NYC, NY
11:38am Q&A Moderated by Katherine Rauen MD PhD, UC Davis, CA
10m 11:50am Commercial Break
1h 12:00-1:00pm Session 2: Novel Strategies and Mechanisms in RASopathies
Moderators: Pau Castel PhD, NYU Langone; Annette Bakker PhD, Children’s Tumor Foundation, NYC, NY
12:00pm Introduction Pau Castel PhD, NYU Langone
12:02pm Intronic CRISPR repair in a preclinical model of LZTR1-associated cardiomyopathy Lukas Cyganek PhD, University Medical Center, Göttingen, Germany
12:14pm Using IPSCs to study syndrome-specific properties Maria Kontaridis PhD, MMRI, Utica, NY
12:26pm How to temper Shoc2-ERK1/2 signals – molecular insights Emilia Galperin PhD, University of Kentucky, Lexington, KY
12:38pm Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants Caitlin Chang MD, British Columbia Women & Children’s Hospital, Vancouver, BC, Canada
12:50pm Q&A Moderated by Pau Castel PhD, NYU Langone
1h 1:00-2:00pm Session 3: Lymphatic and Cardiovascular Manifestations
Moderators: Sahar Mansour MD, St. Georges Hospital, London, UK; David Stevenson MD, Stanford University, CA
1:00pm Introduction Sahar Mansour MD, St. Georges Hospital, London, UK
1:02pm Lymphatic problems and lymphedema in RASopathies Kristiana Gordon MD, St. Georges Hospital, London, UK
1:14pm Patterns and therapeutic options in Noonan syndrome-related lymphatic disorders Maxim Itkin MD, Penn Medicine, Philadelphia, PA
1:26pm Therapeutic strategies for the treatment of hypertrophic cardiomyopathy in Noonan syndrome with multiple lentigines Anton Bennett PhD, Yale School of Medicine, New Haven, CT
1:38pm Q&A Moderated by David Stevenson MD, Stanford University, CA
DAY 2 – SATURDAY, JULY 24, 2021  —  10am to 2pm EDT (7am to 11am PDT)
30m 10:00-10:30am Keynote & Poster Session
Moderator: Beth Stronach PhD, RASopathies Network, Pittsburgh, PA
10:00am Introduction Beth Stronach PhD, RASopathies Network, Pittsburgh, PA
10:02am Opening Keynote: Update on MEK and mTOR inhibition for RASopathy-associated cardiac disease Gregor Andelfinger MD PhD, CHU Ste-Justine, Montreal, Canada,
2019 Penn Medicine MDBR Grant Recipient
10:25am Q&A Moderated by Beth Stronach, PhD, RASopathies Network, Pittsburgh, PA
1h20m 10:30-11:50am Poster Session 6 Posters Presented by RASopathy Individuals and Families – Patients in their Natural Environments
10:30am 1) Child with CFC-YWHAZ Amanda Monty, Mother
10:40am 2) Adult with Attenuated Costello Syndrome Amaris Figueroa, Self Advocate, with Yadira Figueroa, Mother
10:50am 3) Child with NF1 on MEK Inhibitor Hilary Berens, Mother
11:00am Poster Q&A Moderated by Beth Stronach, PhD, RASopathies Network, Pittsburgh, PA
11:10am 4) Child with NS-RIT1 on MEK Inhibitor Samantha Craig Spires, Mother
11:20am 5) Adult with NS-BRAF Katie Ryan, Self Advocate
11:30am 6) Child with NS-SHOC2 Lauren Throop, Mother
11:40am Poster Q&A Moderated by Beth Stronach, PhD, RASopathies Network, Pittsburgh, PA
10m 11:50am Commercial Break
1h 12:00-1:00pm Session 4: Neurocognitive Associations
Moderators: Tamar Green MD, Stanford University, CA; Marni Axelrad PhD, Texas Children’s Hospital, Houston, TX
12:00pm Introduction Marni Axelrad PhD, Texas Children’s Hospital, Houston, TX
12:02pm Non-Neurofibromatosis Type 1 RASopathies, particularly Noonan syndrome, are associated with multi-focal low-grade gliomas which commonly harbor FGFR1 mutations Alberto Broniscer MD MS, University of Pittsburgh Medical Center (UPMC), Children’s Hospital of Pittsburgh
12:14pm Neurological and neurodevelopmental features of CFC syndrome: a multinational study Rene Pierpont PhD, University of Minnesota, Minneapolis, MN
12:26pm Epilepsy and BRAF mutations: phenotypes, natural history, and genotype-phenotype correlations Domenica Battaglia MD, University of Agostino Gemelli, Rome, Italy
12:38pm Behavioral phenotypes across the RASopathies Shruti Garg MBBS MRCPsych PhD, University of Manchester, UK
12:50m Q&A Moderated by Marni Axelrad PhD, Texas Children’s Hospital, Houston, TX
1h 1:00-2:00pm Session 5: Clinical Manifestations
Moderator: Jeroen den Hertog PhD, Leiden University, Utrecht, The Netherlands
1:00pm Introduction Jeroen den Hertog PhD, Leiden University, Utrecht, The Netherlands
1:02pm Mosaicism in RASopathies: HRAS in cancer and Costello syndrome Karen Gripp MD, Nemours/duPont Hospital, Wilmington DE
1:14pm Modeling skeletal myopathy in CFC Katherine Rauen, MD PhD, UC Davis, CA
1:26pm Skin and hair manifestations in CS and CFC Maija Kiuru MD PhD, UC Davis, CA
1:38pm Ocular manifestations in RASopathies Suma Shankar MD PhD, UC Davis, CA
1:40pm Q&A Moderated by Jeroen den Hertog PhD, Leiden University, Utrecht, The Netherlands
DAY 3 – SUNDAY, JULY 25, 2021 —  10am to 4:15pm EDT (7:00am-1:15m PDT)
1h 10:00-11:00am Session 6: Selected Junior Investigator Presentations
Moderators: Amy Roberts MD, Boston Children’s Hospital, MA; William Timmer PhD, NCI CTEP, Bethesda, MD
10:00am Introduction Amy Roberts MD, Boston Children’s Hospital, MA
10:03am Junior Investigator Finalist Presentation #1: A Collection of Drosophila Models to Identify RASopathy Subtype Specific Differences Tirtha Das PhD, Mount Sinai, NYC, NY
10:17am Q&A Moderated by: Amy Roberts MD, Boston Children’s Hospital, MA
10:22am Junior Investigator Finalist Presentation #2: Abnormal Myelin Differentially Impairs Learning in Models of the RASopathies Neurofibromatosis Type 1 and Costello Syndrome Alejandro Lopez-Juarez PhD, UT Rio Grande Valley, TX
10:36am Q&A Moderated by: Amy Roberts MD, Boston Children’s Hospital, MA
10:41m Junior Investigator Finalist Presentation#3: Biochemical analysis of RIT1 reveals preferential interaction with RAF1 and provides evidence for therapeutic intervention of cardiac hypertrophy Richard Van BS, UCSF, CA, and Morgan Wagner BS, NCI RAS Initiative, Frederick, MD
10:55am Q&A Moderated by Amy Roberts MD, Boston Children’s Hospital, MA
2h 11:00am-1:00pm Session 7: Learning from each other: Perspectives on Diagnosis and Therapeutic Interventions
11:00am PANEL: Therapeutic interventions: What’s in the Pipeline?  Small molecules, RNA therapies, NF1 gene therapy Moderator: Stas Shvartzman PhD, Princeton University, NJ

Panelists: Stephanie Ware MD PhD, Indiana University; PJ Brooks PhD, NCATS/NIH; Bruce Korf MD PhD, UAB; Jeff R Livingstone PhD, Igia Pharmaceuticals
11:40am Q&A moderated by Stas Shvartzman PhD, Princeton University, NJ
11:55am Commercial Break
12:05pm Introduction: Compassionate Use and Clinical Trials in the RASopathies Moderators: Pilar Magoulas MS CGC, Texas Children’s Hospital, Houston, TX; Lisa Schill BS, RASopathies Network, Williamstown, NJ
12:10pm FAMILY PANEL: Compassionate use and clinical trials of MEK Inhibitors Advocates Affected by a RASopathy: Theresa Milner, mother of a woman with CFC syndrome; Sarah and Kevin Chamness, parents of a child with CS taking MEKi for HCM; Shane Smith, father of a child with NS taking MEKi for lymphedema; Kevin Plouffe, whose child with NF1 is in a clinical trial for MEKi treatment of plexiform neurofibromas
12:45pm Q&A Moderated by Pilar Magoulas MS CGC, Texas Children’s, Houston, TX; Lisa Schill BS, RASopathies Network, Williamstown, NJ
1:00pm Commercial Break
3h5m 1:10-4:15pm SUMMARY OF THE SYMPOSIUM FOR FAMILIES – FREE SEPARATE REGISTRATION – go here to register: https://rasopathiesnet.org/2021-symposium-registration/
45m:  1:10-1:55pm ET for CFC Families Pilar Magoulas MS, CGC; Suma Shankar MD, PhD; David Stevenson MD;
NCI RASopathies Study Team
45m:  1:55-2:40pm ET for CS Families Karen Gripp MD; Bronwyn Kerr MD; NCI RASopathies Study Team
45m:  2:40-3:25pm ET for NS, NSML Families Bruce Gelb MD; Tamar Green MD; Amy Roberts MD; NCI RASopathies Study Team
45m:  3:25-4:10pm ET for NF1 Families Annette Bakker PhD; Bruce Korf MD PhD
5m Discussion and Closing Remarks Lisa Schoyer, MFA, RASopathies Network, Altadena, CA

 

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Thank You, Sponsors!

~~~ PLATINUM SPONSOR ~~~

Funding for this conference was made possible in part by Grant Award Number R13TR003727 from the National Center For Advancing Translational Sciences of the National Institutes of Health, with secondary assignment support from the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the NIH; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.

~~ GOLD SPONSOR ~~

 

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