Back to the future: Proceedings from the 2010 NF Conference

Susan M. Huson, Maria T. Acosta, Allan J. Belzberg, Andre Bernards, Jonathan Chernoff, Karen Cichowski, D. Gareth Evans, Rosalie E. Ferner, Marco Giovannini, Bruce R. Korf, Robert Listernick, Kathryn N. North, Roger J. Packer, Luis F. Parada, Juha Peltonen, Vijaya Ramesh, Karlyne M. Reilly, John W. Risner, Elizabeth K. Schorry, Meena UpadhyayaDavid H. Viskochil, Yuan Zhu, Kim Hunter-Schaedle, Filippo G. Giancotti

Research output: Contribution to journalArticle

21 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)307-321
Number of pages15
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number2
DOIs
StatePublished - Feb 2011

Fingerprint

Neurofibromatoses
Deaf-Blind Disorders
Developmental Bone Disease
Neoplasms
Baltimore
Preclinical Drug Evaluations
Learning Disorders
Rare Diseases
Tumor Suppressor Genes
Research
Nervous System
Research Personnel
Clinical Trials
Morbidity
Pain
Mutation
Mortality
Growth

Keywords

  • Bone dysplasia
  • Learning disabilities
  • MPNST
  • Neurofibroma
  • Neurofibromatosis
  • NF1
  • NF2
  • Schwannomatosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Huson, S. M., Acosta, M. T., Belzberg, A. J., Bernards, A., Chernoff, J., Cichowski, K., ... Giancotti, F. G. (2011). Back to the future: Proceedings from the 2010 NF Conference. American Journal of Medical Genetics, Part A, 155(2), 307-321. https://doi.org/10.1002/ajmg.a.33804

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; Giancotti, Filippo G.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 2, 02.2011, p. 307-321.

Research output: Contribution to journalArticle

Huson, SM, Acosta, MT, Belzberg, AJ, Bernards, A, Chernoff, J, Cichowski, K, Gareth Evans, D, Ferner, RE, Giovannini, M, Korf, BR, Listernick, R, North, KN, Packer, RJ, Parada, LF, Peltonen, J, Ramesh, V, Reilly, KM, Risner, JW, Schorry, EK, Upadhyaya, M, Viskochil, DH, Zhu, Y, Hunter-Schaedle, K & Giancotti, FG 2011, 'Back to the future: Proceedings from the 2010 NF Conference', American Journal of Medical Genetics, Part A, vol. 155, no. 2, pp. 307-321. https://doi.org/10.1002/ajmg.a.33804
Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K et al. Back to the future: Proceedings from the 2010 NF Conference. American Journal of Medical Genetics, Part A. 2011 Feb;155(2):307-321. https://doi.org/10.1002/ajmg.a.33804
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 ; Giancotti, Filippo G. / Back to the future : Proceedings from the 2010 NF Conference. In: American Journal of Medical Genetics, Part A. 2011 ; Vol. 155, No. 2. pp. 307-321.
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