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The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery

  1. Author:
    Kontaridis, Maria I [ORCID]
    Roberts, Amy E
    Schill, Lisa
    Schoyer, Lisa [ORCID]
    Stronach, Beth
    Andelfinger, Gregor
    Aoki, Yoko
    Axelrad, Marni E
    Bakker, Annette
    Bennett, Anton M
    Broniscer, Alberto
    Castel, Pau
    Chang, Caitlin A [ORCID]
    Cyganek, Lukas
    Das, Tirtha K
    den Hertog, Jeroen
    Galperin, Emilia
    Garg, Shruti
    Gelb, Bruce D [ORCID]
    Gordon, Kristiana
    Green, Tamar
    Gripp, Karen W [ORCID]
    Itkin, Maxim
    Kiuru, Maija
    Korf, Bruce R
    Livingstone, Jeff R
    López-Juárez, Alejandro
    Magoulas, Pilar L
    Mansour, Sahar
    Milner, Theresa
    Parker, Elisabeth
    Pierpont, Elizabeth I [ORCID]
    Plouffe, Kevin
    Rauen, Katherine A [ORCID]
    Shankar, Suma P
    Smith, Shane B
    Stevenson, David A
    Tartaglia, Marco [ORCID]
    Van, Richard
    Wagner,Morgan
    Ware, Stephanie M
    Zenker, Martin [ORCID]

  2. Author Address

    Department of Biomedical Research and Translational Medicine, Masonic Medical Research Institute, Utica, New York, USA., Division of Cardiology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA., Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA., Department of Cardiology, Boston Children 39;s Hospital, Boston, Massachusetts, USA., Division of Genetics, Department of Pediatrics, Boston Children 39;s Hospital, Boston, Massachusetts, USA., RASopathies Network USA, Altadena, California, USA., Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Universit 233; de Montr 233;al, Montr 233;al, Canada., Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan., Section of Psychology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Children 39;s Tumor Foundation, New York, New York, USA., Yale Center for Molecular and Systems Metabolism, Yale University School of Medicine, New Haven, Connecticut, USA., Division of Hematology-Oncology, UPMC Children 39;s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Department of Biochemistry and Molecular Pharmacology, NYU Grossman School of Medicine, New York, New York, USA., Department of Medical Genetics, BC Women and Children 39;s Hospital, Vancouver, British Columbia, Canada., Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center G 246;ttingen, G 246;ttingen, Germany., Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, The Netherlands., Institute Biology Leiden, Leiden University, Leiden, The Netherlands., Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, Kentucky, USA., Division of Neuroscience & Experimental Psychology, Faculty of Biology, Medicine and Health, School of Biological Sciences, Royal Manchester Children 39;s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, University of Manchester & Child & Adolescent Mental Health Services, Manchester, UK., Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Lymphovascular Medicine, Dermatology Department, St. George 39;s University, London, UK., Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA., Department of Genetics, AI duPont Hospital for Children, Wilmington, Delaware, USA., Center for Lymphatic Disorders, Department of Radiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Department of Dermatology, Department of Pathology & Laboratory Medicine, University of California Davis, Sacramento, California, USA., Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Igia Pharmaceuticals, Florence, Kentucky, USA., Department of Health and Biomedical Sciences, University of Texas Rio Grande Valley, Texas, USA., Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children 39;s Hospital, Houston, Texas, USA., Molecular and Clinical Sciences Institute, St George 39;s University, London, UK., South West Thames Regional Genetics Service, St George 39;s NHS Foundation Trust, London, UK., CFC International, Stafford, Virginia, USA., Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., RASopathies Network, Ottawa, Ontario, Canada., Department of Pediatrics, Division of Genomic Medicine, MIND Institute, University of California Davis, Sacramento, California, USA., Department of Ophthalmology and Vision Science, School of Medicine, University of California Davis, Sacramento, California, USA., Neurofibromatosis Network, Orlando, Florida, USA., Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA., Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Ges 249;, IRCCS, Rome, Italy., Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California, USA., NCI RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Department of Pediatrics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Institute of Human Genetics, University Hospital, Otto-von-Guericke University, Magdeburg, Germany.,
    1. Year: 2022
    2. Date: Mar 09
    3. Epub Date: 2022 03 09
  2. Journal: American Journal of Medical Genetics. Part A
  4. Type of Article: Article
  1. Abstract:

    RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed. © 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

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  2. DOI: 10.1002/ajmg.a.62716
  3. PMID: 35266292

Library Notes

  1. Fiscal Year: FY2021-2022
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