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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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.
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