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The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach
Author(s) -
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,
MuleroNavarro Sonia,
Neel Benjamin,
Plotkin Scott,
Rauen Katherine A.,
Roberts Amy,
Silva Alcino J.,
Sittampalam Sitta G.,
Zhang Chao,
Schoyer Lisa
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37089
Subject(s) - noonan syndrome , mapk/erk pathway , medicine , theme (computing) , therapeutic approach , identification (biology) , panel discussion , critical pathways , psychiatry , kinase , biology , genetics , disease , computer science , botany , process management , business , advertising , operating system
“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. © 2015 Wiley Periodicals, Inc.