The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach

Bruce Korf, Reza Ahmadian, Judith Allanson, Yoko Aoki, Annette Bakker, Emma Burkitt Wright, Brian Denger, Ype Elgersma, Bruce D. Gelb, Karen W. Gripp, Bronwyn Kerr, Maria Kontaridis, Conxi Lazaro, Corinne Linardic, Reymundo Lozano, Calum A. Macrae, Ludwine Messiaen, Sonia Mulero-Navarro, Benjamin Neel, Scott PlotkinKatherine A Rauen, Amy Roberts, Alcino J. Silva, Sitta G. Sittampalam, Chao Zhang, Lisa Schoyer

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

"The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Towards a Therapeutic Approach" was held at the Renaissance Orlando at SeaWorld Hotel (August 2-4, 2013). Seventy-one physicians and scientists attended the meeting, and parallel meetings were held by patient advocacy groups (CFC International, Costello Syndrome Family Network, NF Network and Noonan Syndrome Foundation). Parent and patient advocates opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes, to identification of therapeutic targets in the RAS/MAPK pathway, to preclinical drug development and testing, to clinical trials. These proceedings will review the major points of discussion.

Original languageEnglish (US)
Pages (from-to)1741-1746
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number8
DOIs
StatePublished - Aug 1 2015

Fingerprint

Inborn Genetic Diseases
Hope
Costello Syndrome
Noonan Syndrome
Patient Advocacy
Therapeutics
Clinical Trials
Physicians
Phenotype
Pharmaceutical Preparations

Keywords

  • Cardio-facio-cutaneous syndrome
  • Costello syndrome
  • Neurofibromatosis
  • Noonan syndrome
  • Ras

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

The third international meeting on genetic disorders in the RAS/MAPK pathway : Towards a therapeutic approach. / Korf, Bruce; Ahmadian, Reza; Allanson, Judith; Aoki, Yoko; Bakker, Annette; Wright, Emma Burkitt; Denger, Brian; Elgersma, Ype; Gelb, Bruce D.; Gripp, Karen W.; Kerr, Bronwyn; Kontaridis, Maria; Lazaro, Conxi; Linardic, Corinne; Lozano, Reymundo; Macrae, Calum A.; Messiaen, Ludwine; Mulero-Navarro, Sonia; Neel, Benjamin; Plotkin, Scott; Rauen, Katherine A; Roberts, Amy; Silva, Alcino J.; Sittampalam, Sitta G.; Zhang, Chao; Schoyer, Lisa.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 8, 01.08.2015, p. 1741-1746.

Research output: Contribution to journalArticle

Korf, B, Ahmadian, R, Allanson, J, Aoki, Y, Bakker, A, Wright, EB, Denger, B, Elgersma, Y, Gelb, BD, Gripp, KW, Kerr, B, Kontaridis, M, Lazaro, C, Linardic, C, Lozano, R, Macrae, CA, Messiaen, L, Mulero-Navarro, S, Neel, B, Plotkin, S, Rauen, KA, Roberts, A, Silva, AJ, Sittampalam, SG, Zhang, C & Schoyer, L 2015, 'The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach', American Journal of Medical Genetics, Part A, vol. 167, no. 8, pp. 1741-1746. https://doi.org/10.1002/ajmg.a.37089
Korf, Bruce ; Ahmadian, Reza ; Allanson, Judith ; Aoki, Yoko ; Bakker, Annette ; Wright, Emma Burkitt ; Denger, Brian ; Elgersma, Ype ; Gelb, Bruce D. ; Gripp, Karen W. ; Kerr, Bronwyn ; Kontaridis, Maria ; Lazaro, Conxi ; Linardic, Corinne ; Lozano, Reymundo ; Macrae, Calum A. ; Messiaen, Ludwine ; Mulero-Navarro, Sonia ; Neel, Benjamin ; Plotkin, Scott ; Rauen, Katherine A ; Roberts, Amy ; Silva, Alcino J. ; Sittampalam, Sitta G. ; Zhang, Chao ; Schoyer, Lisa. / The third international meeting on genetic disorders in the RAS/MAPK pathway : Towards a therapeutic approach. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 8. pp. 1741-1746.
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