Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
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.
Rauen
Katherine A
KA
University of California San Francisco, San Francisco, California, USA. rauenk@peds.ucsf.edu
Schoyer
Lisa
L
McCormick
Frank
F
Lin
Angela E
AE
Allanson
Judith E
JE
Stevenson
David A
DA
Gripp
Karen W
KW
Neri
Giovanni
G
Carey
John C
JC
Legius
Eric
E
Tartaglia
Marco
M
Schubbert
Suzanne
S
Roberts
Amy E
AE
Gelb
Bruce D
BD
Shannon
Kevin
K
Gutmann
David H
DH
McMahon
Martin
M
Guerra
Carmen
C
Fagin
James A
JA
Yu
Benjamin
B
Aoki
Yoko
Y
Neel
Benjamin G
BG
Balmain
Allan
A
Drake
Richard R
RR
Nolan
Garry P
GP
Zenker
Martin
M
Bollag
Gideon
G
Sebolt-Leopold
Judith
J
Gibbs
Jackson B
JB
Silva
Alcino J
AJ
Patton
E Elizabeth
EE
Viskochil
David H
DH
Kieran
Mark W
MW
Korf
Bruce R
BR
Hagerman
Randi J
RJ
Packer
Roger J
RJ
Melese
Teri
T
D006801:Humans; D020935:MAP Kinase Signaling System; D013577:Syndrome; D018631:ras Proteins / Q000378:metabolism*
D018631:ras Proteins