| Literature DB >> 25900621 |
Bruce Korf1, Reza Ahmadian2, Judith Allanson3, Yoko Aoki4, Annette Bakker5, Emma Burkitt Wright6,7, Brian Denger8, Ype Elgersma9, Bruce D Gelb10, Karen W Gripp11, Bronwyn Kerr12, Maria Kontaridis13, Conxi Lazaro14, Corinne Linardic15, Reymundo Lozano16, Calum A MacRae17, Ludwine Messiaen1, Sonia Mulero-Navarro10, Benjamin Neel18, Scott Plotkin19, Katherine A Rauen20, Amy Roberts21,22, Alcino J Silva23, Sitta G Sittampalam24, Chao Zhang25, Lisa Schoyer26.
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.Entities:
Keywords: Cardio-facio-cutaneous syndrome; Costello syndrome; Noonan syndrome; Ras; neurofibromatosis
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Year: 2015 PMID： 25900621 PMCID： PMC4515140 DOI： 10.1002/ajmg.a.37089
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802