From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

Rosalie E. Ferner, Annette Bakker, Ype Elgersma, D. Gareth R. Evans, Marco Giovannini, Eric Legius, Alison Lloyd, Ludwine M. Messiaen, Scott Plotkin, Karlyne M. Reilly, Aaron Schindeler, Miriam J. Smith, Nicole J. Ullrich, Brigitte Widemann, Lawrence (Larry) Sherman

    Research output: Contribution to journalArticle

    Abstract

    The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. NF2 and schwannomatosis are rare diseases that are typified by multiple schwannomas that are particularly painful in people with schwannomatosis. Since 1985, the Children's Tumor Foundation (formerly the National Neurofibromatosis Foundation) has hosted an international Neurofibromatosis Conference, bringing together international participants who are focused on NF research and clinical care. The 2017 Conference, held in Washington, DC, was among the largest gatherings of NF researchers to date and included presentations from clinicians and basic scientists, highlighting new data regarding the molecular and cellular mechanisms underlying each of these diseases as well as results from clinical studies and clinical trials. This article summarizes the findings presented at the meeting and represents the current state-of-the art for NF research.

    Original languageEnglish (US)
    JournalAmerican Journal of Medical Genetics, Part A
    DOIs
    StatePublished - Jan 1 2019

    Fingerprint

    Neurofibromatosis 2
    Neurofibromatoses
    Neurofibromatosis 1
    Nervous System Neoplasms
    Nerve Sheath Neoplasms
    Neurilemmoma
    Rare Diseases
    Research
    Neoplasms
    Research Personnel
    Clinical Trials
    Mutation
    Schwannomatosis

    Keywords

    • neurofibromatosis 1
    • neurofibromatosis 2
    • schwannomatosis

    ASJC Scopus subject areas

    • Genetics(clinical)

    Cite this

    From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis. / Ferner, Rosalie E.; Bakker, Annette; Elgersma, Ype; Evans, D. Gareth R.; Giovannini, Marco; Legius, Eric; Lloyd, Alison; Messiaen, Ludwine M.; Plotkin, Scott; Reilly, Karlyne M.; Schindeler, Aaron; Smith, Miriam J.; Ullrich, Nicole J.; Widemann, Brigitte; Sherman, Lawrence (Larry).

    In: American Journal of Medical Genetics, Part A, 01.01.2019.

    Research output: Contribution to journalArticle

    Ferner, RE, Bakker, A, Elgersma, Y, Evans, DGR, Giovannini, M, Legius, E, Lloyd, A, Messiaen, LM, Plotkin, S, Reilly, KM, Schindeler, A, Smith, MJ, Ullrich, NJ, Widemann, B & Sherman, LL 2019, 'From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis' American Journal of Medical Genetics, Part A. https://doi.org/10.1002/ajmg.a.61112
    Ferner, Rosalie E. ; Bakker, Annette ; Elgersma, Ype ; Evans, D. Gareth R. ; Giovannini, Marco ; Legius, Eric ; Lloyd, Alison ; Messiaen, Ludwine M. ; Plotkin, Scott ; Reilly, Karlyne M. ; Schindeler, Aaron ; Smith, Miriam J. ; Ullrich, Nicole J. ; Widemann, Brigitte ; Sherman, Lawrence (Larry). / From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis. In: American Journal of Medical Genetics, Part A. 2019.
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    AU - Giovannini, Marco

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