CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

Brigitte C. Widemann, Maria T. Acosta, Sylvia Ammoun, Allan J. Belzberg, Andre Bernards, Jaishri Blakeley, Antony Bretscher, Karen Cichowski, D. Wade Clapp, Eva Dombi, Gareth D. Evans, Rosalie Ferner, Cristina Fernandez-Valle, Michael J. Fisher, Marco Giovannini, David H. Gutmann, C. Oliver Hanemann, Robert Hennigan, Susan Huson, David IngramJoe Kissil, Bruce R. Korf, Eric Legius, Roger J. Packer, Andrea I. Mcclatchey, Frank Mccormick, Kathryn North, Minja Pehrsson, Scott R. Plotkin, Vijaya Ramesh, Nancy Ratner, Susann Schirmer, Lawrence (Larry) Sherman, Elizabeth Schorry, David Stevenson, Douglas R. Stewart, Nicole Ullrich, Annette C. Bakker, Helen Morrison

    Research output: Contribution to journalArticle

    17 Citations (Scopus)

    Abstract

    The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a "state-of-the-field" for NF research in 2012.

    Original languageEnglish (US)
    Pages (from-to)563-578
    Number of pages16
    JournalAmerican Journal of Medical Genetics, Part A
    Volume164
    Issue number3
    DOIs
    StatePublished - Mar 2014

    Fingerprint

    Neurofibromatoses
    Nervous System Neoplasms
    Therapeutics
    Mutation
    Inborn Genetic Diseases
    Duchenne Muscular Dystrophy
    Schwannomatosis
    Cranial Nerves
    Learning Disorders
    Huntington Disease
    Deafness
    Muscular Diseases
    Rare Diseases
    Tumor Suppressor Genes
    Neoplasms
    Research Personnel
    Clinical Trials
    Morbidity
    Pain
    Research

    Keywords

    • Merlin neurofibromin
    • Neurofibromatosis type 1
    • Neurofibromatosis type 2
    • NF1
    • NF2
    • Preclinical models
    • Schwannomatosis
    • SMARCB1
    • Tumor suppressor

    ASJC Scopus subject areas

    • Genetics(clinical)
    • Genetics

    Cite this

    CTF meeting 2012 : Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies. / Widemann, Brigitte C.; Acosta, Maria T.; Ammoun, Sylvia; Belzberg, Allan J.; Bernards, Andre; Blakeley, Jaishri; Bretscher, Antony; Cichowski, Karen; Clapp, D. Wade; Dombi, Eva; Evans, Gareth D.; Ferner, Rosalie; Fernandez-Valle, Cristina; Fisher, Michael J.; Giovannini, Marco; Gutmann, David H.; Hanemann, C. Oliver; Hennigan, Robert; Huson, Susan; Ingram, David; Kissil, Joe; Korf, Bruce R.; Legius, Eric; Packer, Roger J.; Mcclatchey, Andrea I.; Mccormick, Frank; North, Kathryn; Pehrsson, Minja; Plotkin, Scott R.; Ramesh, Vijaya; Ratner, Nancy; Schirmer, Susann; Sherman, Lawrence (Larry); Schorry, Elizabeth; Stevenson, David; Stewart, Douglas R.; Ullrich, Nicole; Bakker, Annette C.; Morrison, Helen.

    In: American Journal of Medical Genetics, Part A, Vol. 164, No. 3, 03.2014, p. 563-578.

    Research output: Contribution to journalArticle

    Widemann, BC, Acosta, MT, Ammoun, S, Belzberg, AJ, Bernards, A, Blakeley, J, Bretscher, A, Cichowski, K, Clapp, DW, Dombi, E, Evans, GD, Ferner, R, Fernandez-Valle, C, Fisher, MJ, Giovannini, M, Gutmann, DH, Hanemann, CO, Hennigan, R, Huson, S, Ingram, D, Kissil, J, Korf, BR, Legius, E, Packer, RJ, Mcclatchey, AI, Mccormick, F, North, K, Pehrsson, M, Plotkin, SR, Ramesh, V, Ratner, N, Schirmer, S, Sherman, LL, Schorry, E, Stevenson, D, Stewart, DR, Ullrich, N, Bakker, AC & Morrison, H 2014, 'CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies', American Journal of Medical Genetics, Part A, vol. 164, no. 3, pp. 563-578. https://doi.org/10.1002/ajmg.a.36312
    Widemann, Brigitte C. ; Acosta, Maria T. ; Ammoun, Sylvia ; Belzberg, Allan J. ; Bernards, Andre ; Blakeley, Jaishri ; Bretscher, Antony ; Cichowski, Karen ; Clapp, D. Wade ; Dombi, Eva ; Evans, Gareth D. ; Ferner, Rosalie ; Fernandez-Valle, Cristina ; Fisher, Michael J. ; Giovannini, Marco ; Gutmann, David H. ; Hanemann, C. Oliver ; Hennigan, Robert ; Huson, Susan ; Ingram, David ; Kissil, Joe ; Korf, Bruce R. ; Legius, Eric ; Packer, Roger J. ; Mcclatchey, Andrea I. ; Mccormick, Frank ; North, Kathryn ; Pehrsson, Minja ; Plotkin, Scott R. ; Ramesh, Vijaya ; Ratner, Nancy ; Schirmer, Susann ; Sherman, Lawrence (Larry) ; Schorry, Elizabeth ; Stevenson, David ; Stewart, Douglas R. ; Ullrich, Nicole ; Bakker, Annette C. ; Morrison, Helen. / CTF meeting 2012 : Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 3. pp. 563-578.
    @article{aee8fdf2ebcd4ba08b1932ea79bf85f9,
    title = "CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies",
    abstract = "The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a {"}state-of-the-field{"} for NF research in 2012.",
    keywords = "Merlin neurofibromin, Neurofibromatosis type 1, Neurofibromatosis type 2, NF1, NF2, Preclinical models, Schwannomatosis, SMARCB1, Tumor suppressor",
    author = "Widemann, {Brigitte C.} and Acosta, {Maria T.} and Sylvia Ammoun and Belzberg, {Allan J.} and Andre Bernards and Jaishri Blakeley and Antony Bretscher and Karen Cichowski and Clapp, {D. Wade} and Eva Dombi and Evans, {Gareth D.} and Rosalie Ferner and Cristina Fernandez-Valle and Fisher, {Michael J.} and Marco Giovannini and Gutmann, {David H.} and Hanemann, {C. Oliver} and Robert Hennigan and Susan Huson and David Ingram and Joe Kissil and Korf, {Bruce R.} and Eric Legius and Packer, {Roger J.} and Mcclatchey, {Andrea I.} and Frank Mccormick and Kathryn North and Minja Pehrsson and Plotkin, {Scott R.} and Vijaya Ramesh and Nancy Ratner and Susann Schirmer and Sherman, {Lawrence (Larry)} and Elizabeth Schorry and David Stevenson and Stewart, {Douglas R.} and Nicole Ullrich and Bakker, {Annette C.} and Helen Morrison",
    year = "2014",
    month = "3",
    doi = "10.1002/ajmg.a.36312",
    language = "English (US)",
    volume = "164",
    pages = "563--578",
    journal = "American Journal of Medical Genetics, Part A",
    issn = "1552-4825",
    publisher = "Wiley-Liss Inc.",
    number = "3",

    }

    TY - JOUR

    T1 - CTF meeting 2012

    T2 - Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

    AU - Widemann, Brigitte C.

    AU - Acosta, Maria T.

    AU - Ammoun, Sylvia

    AU - Belzberg, Allan J.

    AU - Bernards, Andre

    AU - Blakeley, Jaishri

    AU - Bretscher, Antony

    AU - Cichowski, Karen

    AU - Clapp, D. Wade

    AU - Dombi, Eva

    AU - Evans, Gareth D.

    AU - Ferner, Rosalie

    AU - Fernandez-Valle, Cristina

    AU - Fisher, Michael J.

    AU - Giovannini, Marco

    AU - Gutmann, David H.

    AU - Hanemann, C. Oliver

    AU - Hennigan, Robert

    AU - Huson, Susan

    AU - Ingram, David

    AU - Kissil, Joe

    AU - Korf, Bruce R.

    AU - Legius, Eric

    AU - Packer, Roger J.

    AU - Mcclatchey, Andrea I.

    AU - Mccormick, Frank

    AU - North, Kathryn

    AU - Pehrsson, Minja

    AU - Plotkin, Scott R.

    AU - Ramesh, Vijaya

    AU - Ratner, Nancy

    AU - Schirmer, Susann

    AU - Sherman, Lawrence (Larry)

    AU - Schorry, Elizabeth

    AU - Stevenson, David

    AU - Stewart, Douglas R.

    AU - Ullrich, Nicole

    AU - Bakker, Annette C.

    AU - Morrison, Helen

    PY - 2014/3

    Y1 - 2014/3

    N2 - The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a "state-of-the-field" for NF research in 2012.

    AB - The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a "state-of-the-field" for NF research in 2012.

    KW - Merlin neurofibromin

    KW - Neurofibromatosis type 1

    KW - Neurofibromatosis type 2

    KW - NF1

    KW - NF2

    KW - Preclinical models

    KW - Schwannomatosis

    KW - SMARCB1

    KW - Tumor suppressor

    UR - http://www.scopus.com/inward/record.url?scp=84894241229&partnerID=8YFLogxK

    UR - http://www.scopus.com/inward/citedby.url?scp=84894241229&partnerID=8YFLogxK

    U2 - 10.1002/ajmg.a.36312

    DO - 10.1002/ajmg.a.36312

    M3 - Article

    C2 - 24443315

    AN - SCOPUS:84894241229

    VL - 164

    SP - 563

    EP - 578

    JO - American Journal of Medical Genetics, Part A

    JF - American Journal of Medical Genetics, Part A

    SN - 1552-4825

    IS - 3

    ER -