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Back to the future: Proceedings from the 2010 NF Conference
Author(s) -
Huson Susan M.,
Acosta Maria T.,
Belzberg Allan J.,
Bernards Andre,
Chernoff Jonathan,
Cichowski Karen,
Gareth Evans D.,
Ferner Rosalie E.,
Giovannini Marco,
Korf Bruce R.,
Listernick Robert,
North Kathryn N.,
Packer Roger J.,
Parada Luis F.,
Peltonen Juha,
Ramesh Vijaya,
Reilly Karlyne M.,
Risner John W.,
Schorry Elizabeth K.,
Upadhyaya Meena,
Viskochil David H.,
Zhu Yuan,
HunterSchaedle Kim,
Giancotti Filippo G.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33804
Subject(s) - disfigurement , neurofibromatoses , blindness , medicine , pathology , neurofibromatosis , surgery , optometry
The neurofibromatoses (NF) encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect 100,000 Americans; over 2 million persons worldwide; and are caused by mutation of tumor suppressor genes. Individuals with NF1 in particular may develop tumors anywhere in the nervous system; additional manifestations can include learning disabilities, bone dysplasia, cardiovascular defects, unmanageable pain, and physical disfigurement. Ultimately, the NFs can cause blindness, deafness, severe morbidity, and increased mortality and NF1 includes a risk of malignant cancer. Today there is no treatment for the NFs (other than symptomatic); however, research efforts to understand these genetic conditions have made tremendous strides in the past few years. Progress is being made on all fronts, from discovery studies—understanding the molecular signaling deficits that cause the manifestations of NF—to the growth of preclinical drug screening initiatives and the emergence of a number of clinical trials. An important element in fuelling this progress is the sharing of knowledge, and to this end, for over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share ideas and build collaborations. The 2010 NF Conference held in Baltimore, MD June 5–8, 2010 hosted over 300 NF researchers and clinicians. This paper provides a synthesis of the highlights presented at the Conference and as such, is a “state‐of‐the‐field” for NF research in 2010. © 2010 Wiley‐Liss, Inc.