| Literature DB >> 28436162 |
Jaishri O Blakeley1, Annette Bakker2, Anne Barker3, Wade Clapp4, Rosalie Ferner5, Michael J Fisher6, Marco Giovannini7, David H Gutmann8, Matthias A Karajannis9, Joseph L Kissil10, Eric Legius11, Alison C Lloyd12, Roger J Packer13, Vijaya Ramesh14, Vincent M Riccardi15, David A Stevenson16, Nicole J Ullrich17, Meena Upadhyaya18, Anat Stemmer-Rachamimov19.
Abstract
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.Entities:
Keywords: neurofibromatosis type 1; neurofibromatosis type 2; pediatric tumors; rare disease; schwannomatosis; therapeutic discovery
Mesh:
Year: 2017 PMID: 28436162 DOI: 10.1002/ajmg.a.38239
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802