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

研究成果: Article査読

6 被引用数 (Scopus)

抄録

"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.

本文言語English
ページ(範囲)1741-1746
ページ数6
ジャーナルAmerican Journal of Medical Genetics, Part A
167
8
DOI
出版ステータスPublished - 2015 8月 1

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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