Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Katherine A Rauen, Lisa Schoyer, Frank McCormick, Angela E. Lin, Judith E. Allanson, David A. Stevenson, Karen W. Gripp, Giovanni Neri, John C. Carey, Eric Legius, Marco Tartaglia, Suzanne Schubbert, Amy E. Roberts, Bruce D. Gelb, Kevin Shannon, David H. Gutmann, Martin McMahon, Carmen Guerra, James A. Fagin, Benjamin YuYoko Aoki, Benjamin G. Neel, Allan Balmain, Richard R. Drake, Garry P. Nolan, Martin Zenker, Gideon Bollag, Judith Sebolt-Leopold, Jackson B. Gibbs, Alcino J. Silva, E. Elizabeth Patton, David H. Viskochil, Mark W. Kieran, Bruce R. Korf, Randi J Hagerman, Roger J. Packer, Teri Melese

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/ mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back" chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies were successfully meet with a commitment to begin to move towards clinical trials.

Original languageEnglish (US)
Pages (from-to)4-24
Number of pages21
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number1
DOIs
StatePublished - Jan 2010

Keywords

  • Cardio-facio-cutaneous syndrome
  • Clinical trial
  • Costello syndrome
  • Legius syndrome
  • Neurofibromatosis type 1
  • Noonan syndrome
  • Ras/MAPK
  • RASopathy
  • Signal transduction pathway
  • Therapy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Rauen, K. A., Schoyer, L., McCormick, F., Lin, A. E., Allanson, J. E., Stevenson, D. A., Gripp, K. W., Neri, G., Carey, J. C., Legius, E., Tartaglia, M., Schubbert, S., Roberts, A. E., Gelb, B. D., Shannon, K., Gutmann, D. H., McMahon, M., Guerra, C., Fagin, J. A., ... Melese, T. (2010). Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. American Journal of Medical Genetics, Part A, 152(1), 4-24. https://doi.org/10.1002/ajmg.a.33183