Premium
From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis
Author(s) -
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 Larry S.
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61112
Subject(s) - neurofibromatosis , neurofibromatoses , medicine , neurofibromatosis type 2 , clinical trial , disease , neurofibromin 1 , bioinformatics , pathology , biology
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.