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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
ROSSIGNOL, Rodrigue
Biothérapies des maladies génétiques et cancers
Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] [CRCTB]
Centre Génomique Fonctionnelle Bordeaux [Bordeaux] [CGFB]
Université de Bordeaux [UB]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
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Biothérapies des maladies génétiques et cancers
Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] [CRCTB]
Centre Génomique Fonctionnelle Bordeaux [Bordeaux] [CGFB]
Université de Bordeaux [UB]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Language
EN
Article de revue
This item was published in
American Journal of Medical Genetics Part A. 2024-04-01, vol. 194, n° 4, p. 63477
English Abstract
Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide ...Read more >
Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. With increasing global recognition of these conditions, the 8th International RASopathies Symposium spotlighted global perspectives on clinical care and research, including strategies for building international collaborations and developing diverse patient cohorts in anticipation of interventional trials. This biannual meeting, organized by RASopathies Network, was held in a hybrid virtual/in-person format. The agenda featured emerging discoveries and case findings as well as progress in preclinical and therapeutic pipelines. Stakeholders including basic scientists, clinician-scientists, practitioners, industry representatives, patients, and family advocates gathered to discuss cutting edge science, recognize current gaps in knowledge, and hear from people with RASopathies about the experience of daily living. Presentations by RASopathy self-advocates and early-stage investigators were featured throughout the program to encourage a sustainable, diverse, long-term research and advocacy partnership focused on improving health and bringing treatments to people with RASopathies.Read less <
English Keywords
Humans
ras Proteins
MAP Kinase Signaling System
Costello Syndrome
Neoplasms
Ectodermal Dysplasia
Noonan Syndrome
Heart Defects
Congenital