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Back to the future: proceedings from the 2010 NF Conference

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, Hunter-Schaedle, Kim and Giancotti, Filippo G. 2011. Back to the future: proceedings from the 2010 NF Conference. American Journal of Medical Genetics Part A 155 (2) , pp. 307-321. 10.1002/ajmg.a.33804

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Abstract

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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RB Pathology
R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Uncontrolled Keywords: neurofibromatosis, schwannomatosis, NF1, NF2, neurofibroma, learning disabilities, bone dysplasia, MPNST
Publisher: Wiley and Blackwell
ISSN: 1552-4825
Last Modified: 04 Jun 2017 03:33
URI: http://orca.cf.ac.uk/id/eprint/22803

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