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, 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 - NF1
KW - NF2
KW - Neurofibromatosis type 1
KW - Neurofibromatosis type 2
KW - Preclinical models
KW - SMARCB1
KW - Schwannomatosis
KW - Tumor suppressor
UR - http://www.scopus.com/inward/record.url?scp=84894241229&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36312
DO - 10.1002/ajmg.a.36312
M3 - Article
C2 - 24443315
AN - SCOPUS:84894241229
SN - 1552-4825
VL - 164
SP - 563
EP - 578
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -