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http://hdl.handle.net/2445/126649
Title: | The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Toward a Therapeutic Approach |
Author: | Korf, Bruce Ahmadian, Reza Allanson, Judith Aoki, Yoko Bakker, Annette Burkitt Wright, Emma Denger, Brian Elgersma, Ype Gelb, Bruce D. Gripp, Karen W. Kerr, Bronwyn Kontaridis, Maria Lázaro García, Conxi Linardic, Corinne Lozano Rubí, Raimundo MacRae, Calum A. Messiaen, Ludwine M. Mulero Navarro, Sonia Neel, Benjamin Plotkin, Scott Rauen, Katherine A. Roberts, Amy Silva, Alcino J. Sittampalam, Sitta G. Zhang, Chao Schoyer, Lisa |
Keywords: | Neurofibromatosi Síndrome de Noonan Neurofibromatosis Noonan Syndrome |
Issue Date: | Aug-2015 |
Publisher: | Wiley |
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. |
Note: | Versió postprint del document publicat a: https://doi.org/10.1002/ajmg.a.37089 |
It is part of: | American Journal of Medical Genetics Part A, 2015, vol. 167, num.8, p. 1741-1746 |
URI: | http://hdl.handle.net/2445/126649 |
Related resource: | https://doi.org/10.1002/ajmg.a.37089 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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