title: Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
abstract: The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back" chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies were successfully meet with a commitment to begin to move towards clinical trials.
authors.affiliation: University of California San Francisco, San Francisco, California, USA. rauenk@peds.ucsf.edu
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Rauen
authors.forename: Lisa
authors.initials: L
authors.lastname: Schoyer
authors.forename: Frank
authors.initials: F
authors.lastname: McCormick
authors.forename: Angela E
authors.initials: AE
authors.lastname: Lin
authors.forename: Judith E
authors.initials: JE
authors.lastname: Allanson
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.forename: Eric
authors.initials: E
authors.lastname: Legius
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
authors.forename: Suzanne
authors.initials: S
authors.lastname: Schubbert
authors.forename: Amy E
authors.initials: AE
authors.lastname: Roberts
authors.forename: Bruce D
authors.initials: BD
authors.lastname: Gelb
authors.forename: Kevin
authors.initials: K
authors.lastname: Shannon
authors.forename: David H
authors.initials: DH
authors.lastname: Gutmann
authors.forename: Martin
authors.initials: M
authors.lastname: McMahon
authors.forename: Carmen
authors.initials: C
authors.lastname: Guerra
authors.forename: James A
authors.initials: JA
authors.lastname: Fagin
authors.forename: Benjamin
authors.initials: B
authors.lastname: Yu
authors.forename: Yoko
authors.initials: Y
authors.lastname: Aoki
authors.forename: Benjamin G
authors.initials: BG
authors.lastname: Neel
authors.forename: Allan
authors.initials: A
authors.lastname: Balmain
authors.forename: Richard R
authors.initials: RR
authors.lastname: Drake
authors.forename: Garry P
authors.initials: GP
authors.lastname: Nolan
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Gideon
authors.initials: G
authors.lastname: Bollag
authors.forename: Judith
authors.initials: J
authors.lastname: Sebolt-Leopold
authors.forename: Jackson B
authors.initials: JB
authors.lastname: Gibbs
authors.forename: Alcino J
authors.initials: AJ
authors.lastname: Silva
authors.forename: E Elizabeth
authors.initials: EE
authors.lastname: Patton
authors.forename: David H
authors.initials: DH
authors.lastname: Viskochil
authors.forename: Mark W
authors.initials: MW
authors.lastname: Kieran
authors.forename: Bruce R
authors.initials: BR
authors.lastname: Korf
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: Roger J
authors.initials: RJ
authors.lastname: Packer
authors.forename: Teri
authors.initials: T
authors.lastname: Melese
mesh_terms: D006801:Humans; D020935:MAP Kinase Signaling System; D013577:Syndrome; D018631:ras Proteins / Q000378:metabolism*
chemical_list: D018631:ras Proteins