The path forward

2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis

Jaishri O. Blakeley, Annette Bakker, Anna Barker, Wade Clapp, Rosalie Ferner, Michael J. Fisher, Marco Giovannini, David H. Gutmann, Matthias A. Karajannis, Joseph L. Kissil, Eric Legius, Alison C. Lloyd, Roger J. Packer, Vijaya Ramesh, Vincent M. Riccardi, David A. Stevenson, Nicole J. Ullrich, Meena Upadhyaya, Anat Stemmer-Rachamimov

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1714-1721
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number6
DOIs
StatePublished - Jun 1 2017

Fingerprint

Neurofibromatosis 2
Neurofibromatosis 1
Neurofibromatoses
Neoplasms
Drug Industry
Meningioma
Tumor Biomarkers
Rare Diseases
Neuroblastoma
Glioma
Sarcoma
Carcinogenesis
Research Personnel
Pediatrics
Mutation
Therapeutics
Research
Schwannomatosis

Keywords

  • neurofibromatosis type 1
  • neurofibromatosis type 2
  • pediatric tumors
  • rare disease
  • schwannomatosis
  • therapeutic discovery

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

The path forward : 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. / Blakeley, Jaishri O.; Bakker, Annette; Barker, Anna; Clapp, Wade; Ferner, Rosalie; Fisher, Michael J.; Giovannini, Marco; Gutmann, David H.; Karajannis, Matthias A.; Kissil, Joseph L.; Legius, Eric; Lloyd, Alison C.; Packer, Roger J.; Ramesh, Vijaya; Riccardi, Vincent M.; Stevenson, David A.; Ullrich, Nicole J.; Upadhyaya, Meena; Stemmer-Rachamimov, Anat.

In: American Journal of Medical Genetics, Part A, Vol. 173, No. 6, 01.06.2017, p. 1714-1721.

Research output: Contribution to journalArticle

Blakeley, JO, Bakker, A, Barker, A, Clapp, W, Ferner, R, Fisher, MJ, Giovannini, M, Gutmann, DH, Karajannis, MA, Kissil, JL, Legius, E, Lloyd, AC, Packer, RJ, Ramesh, V, Riccardi, VM, Stevenson, DA, Ullrich, NJ, Upadhyaya, M & Stemmer-Rachamimov, A 2017, 'The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis', American Journal of Medical Genetics, Part A, vol. 173, no. 6, pp. 1714-1721. https://doi.org/10.1002/ajmg.a.38239
Blakeley, Jaishri O. ; Bakker, Annette ; Barker, Anna ; Clapp, Wade ; Ferner, Rosalie ; Fisher, Michael J. ; Giovannini, Marco ; Gutmann, David H. ; Karajannis, Matthias A. ; Kissil, Joseph L. ; Legius, Eric ; Lloyd, Alison C. ; Packer, Roger J. ; Ramesh, Vijaya ; Riccardi, Vincent M. ; Stevenson, David A. ; Ullrich, Nicole J. ; Upadhyaya, Meena ; Stemmer-Rachamimov, Anat. / The path forward : 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. In: American Journal of Medical Genetics, Part A. 2017 ; Vol. 173, No. 6. pp. 1714-1721.
@article{37aa787e46764c65aab44c1b75e1ffb3,
title = "The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis",
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.",
keywords = "neurofibromatosis type 1, neurofibromatosis type 2, pediatric tumors, rare disease, schwannomatosis, therapeutic discovery",
author = "Blakeley, {Jaishri O.} and Annette Bakker and Anna Barker and Wade Clapp and Rosalie Ferner and Fisher, {Michael J.} and Marco Giovannini and Gutmann, {David H.} and Karajannis, {Matthias A.} and Kissil, {Joseph L.} and Eric Legius and Lloyd, {Alison C.} and Packer, {Roger J.} and Vijaya Ramesh and Riccardi, {Vincent M.} and Stevenson, {David A.} and Ullrich, {Nicole J.} and Meena Upadhyaya and Anat Stemmer-Rachamimov",
year = "2017",
month = "6",
day = "1",
doi = "10.1002/ajmg.a.38239",
language = "English (US)",
volume = "173",
pages = "1714--1721",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "6",

}

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, Anna

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

PY - 2017/6/1

Y1 - 2017/6/1

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

UR - http://www.scopus.com/inward/citedby.url?scp=85018772001&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.38239

DO - 10.1002/ajmg.a.38239

M3 - Article

VL - 173

SP - 1714

EP - 1721

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 6

ER -