TY - JOUR
T1 - The third international meeting on genetic disorders in the RAS/MAPK pathway
T2 - Towards a therapeutic approach
AU - Korf, Bruce
AU - Ahmadian, Reza
AU - Allanson, Judith
AU - Aoki, Yoko
AU - Bakker, Annette
AU - Wright, Emma Burkitt
AU - Denger, Brian
AU - Elgersma, Ype
AU - Gelb, Bruce D.
AU - Gripp, Karen W.
AU - Kerr, Bronwyn
AU - Kontaridis, Maria
AU - Lazaro, Conxi
AU - Linardic, Corinne
AU - Lozano, Reymundo
AU - Macrae, Calum A.
AU - Messiaen, Ludwine
AU - Mulero-Navarro, Sonia
AU - Neel, Benjamin
AU - Plotkin, Scott
AU - Rauen, Katherine A.
AU - Roberts, Amy
AU - Silva, Alcino J.
AU - Sittampalam, Sitta G.
AU - Zhang, Chao
AU - Schoyer, Lisa
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/8/1
Y1 - 2015/8/1
N2 - "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.
AB - "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.
KW - Cardio-facio-cutaneous syndrome
KW - Costello syndrome
KW - Neurofibromatosis
KW - Noonan syndrome
KW - Ras
UR - https://www.scopus.com/pages/publications/84937972216
U2 - 10.1002/ajmg.a.37089
DO - 10.1002/ajmg.a.37089
M3 - Article
C2 - 25900621
AN - SCOPUS:84937972216
SN - 1552-4825
VL - 167
SP - 1741
EP - 1746
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -