Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies.
MIND Institute, University of California at Davis, Sacramento, California.
Katherine A
KA
Rauen
Susan M
SM
Huson
Emma
E
Burkitt-Wright
D Gareth
DG
Evans
Said
S
Farschtschi
Rosalie E
RE
Ferner
David H
DH
Gutmann
C Oliver
CO
Hanemann
Bronwyn
B
Kerr
Eric
E
Legius
Luis F
LF
Parada
Michael
M
Patton
Juha
J
Peltonen
Nancy
N
Ratner
Vincent M
VM
Riccardi
Thijs
T
van der Vaart
Miikka
M
Vikkula
David H
DH
Viskochil
Martin
M
Zenker
Meena
M
Upadhyaya
D000818:Animals; D002986:Clinical Trials as Topic; D004195:Disease Models, Animal; D006801:Humans; D008279:Magnetic Resonance Imaging; D051379:Mice; D009154:Mutation / Q000235:genetics; D017253:Neurofibromatoses / Q000175:diagnosis* / Q000628:therapy*; D013577:Syndrome; D047368:Tumor Burden; D018631:ras Proteins / Q000235:genetics*
D018631:ras Proteins
Costello syndrome; Legius syndrome; Noonan syndrome; RASopathy; Ras/MAPK; capillary malformation-AV malformation syndrome; cardio-facio-cutaneous syndrome; neurofibromatosis; signal transduction pathway; therapy