TY - JOUR
T1 - The path forward
T2 - 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis
AU - Blakeley, Jaishri O.
AU - Bakker, Annette
AU - Barker, Anne
AU - Clapp, Wade
AU - Ferner, Rosalie
AU - Fisher, Michael J.
AU - Giovannini, Marco
AU - Gutmann, David H.
AU - Karajannis, Matthias A.
AU - Kissil, Joseph L.
AU - Legius, Eric
AU - Lloyd, Alison C.
AU - Packer, Roger J.
AU - Ramesh, Vijaya
AU - Riccardi, Vincent M.
AU - Stevenson, David A.
AU - Ullrich, Nicole J.
AU - Upadhyaya, Meena
AU - Stemmer-Rachamimov, Anat
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/6
Y1 - 2017/6
N2 - The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Importantly, this conference is a forum for presenting work in progress and bringing together all stakeholders in the scientific community. A highlight of the conference was the involvement of scientists from the pharmaceutical industry who presented growing efforts for rare disease therapeutic development in general and specifically, in pediatric patients with rare tumor syndromes. Another highlight was the focus on new investigators who presented new data about biomarker discovery, tumor pathogenesis, and diagnostic tools for NF1, NF2, and SWN. This report summarizes the themes of the meeting and a synthesis of the scientific discoveries presented at the conference in order to make the larger research community aware of progress in the neurofibromatoses.
AB - The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Importantly, this conference is a forum for presenting work in progress and bringing together all stakeholders in the scientific community. A highlight of the conference was the involvement of scientists from the pharmaceutical industry who presented growing efforts for rare disease therapeutic development in general and specifically, in pediatric patients with rare tumor syndromes. Another highlight was the focus on new investigators who presented new data about biomarker discovery, tumor pathogenesis, and diagnostic tools for NF1, NF2, and SWN. This report summarizes the themes of the meeting and a synthesis of the scientific discoveries presented at the conference in order to make the larger research community aware of progress in the neurofibromatoses.
KW - neurofibromatosis type 1
KW - neurofibromatosis type 2
KW - pediatric tumors
KW - rare disease
KW - schwannomatosis
KW - therapeutic discovery
UR - http://www.scopus.com/inward/record.url?scp=85018772001&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.38239
DO - 10.1002/ajmg.a.38239
M3 - Article
C2 - 28436162
AN - SCOPUS:85018772001
SN - 1552-4825
VL - 173
SP - 1714
EP - 1721
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 6
ER -