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The sixth international RASopathies symposium: Precision medicine—From promise to practice
Author(s) -
Gripp Karen W.,
Schill Lisa,
Schoyer Lisa,
Stronach Beth,
Bennett Anton M.,
Blaser Susan,
Brown Amanda,
Burdine Rebecca,
BurkittWright Emma,
Castel Pau,
Darilek Sandra,
Dias Alwyn,
Dyer Tuesdi,
Ellis Michelle,
Erickson Gregg,
Gelb Bruce D.,
Green Tamar,
Gross Andrea,
Ho Alan,
Holder James Lloyd,
Inoue ShinIchi,
Jelin Angie C.,
Kennedy Annie,
Klein Richard,
Kontaridis Maria I.,
Magoulas Pilar,
McConnell Darryl B.,
McCormick Frank,
Neel Benjamin G.,
Prada Carlos E.,
Rauen Katherine A.,
Roberts Amy,
RodriguezViciana Pablo,
Rosen Neal,
Rumbaugh Gavin,
Sablina Anna,
Solman Maja,
Tartaglia Marco,
Thomas Angelica,
Timmer William C.,
Venkatachalam Kartik,
Walsh Karin S.,
Wolters Pamela L.,
Yi JaeSung,
Zenker Martin,
Ratner Nancy
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61434
Subject(s) - context (archaeology) , mapk/erk pathway , precision medicine , costello syndrome , medicine , drug development , clinical trial , bioinformatics , mutation , biology , drug , gene , genetics , kinase , pharmacology , pathology , paleontology , kras
The RASopathies are a group of genetic disorders that result from germline pathogenic variants affecting RAS‐mitogen activated protein kinase (MAPK) pathway genes. RASopathies share RAS/MAPK pathway dysregulation and share phenotypic manifestations affecting numerous organ systems, causing lifelong and at times life‐limiting medical complications. RASopathies may benefit from precision medicine approaches. For this reason, the Sixth International RASopathies Symposium focused on exploring precision medicine. This meeting brought together basic science researchers, clinicians, clinician scientists, patient advocates, and representatives from pharmaceutical companies and the National Institutes of Health. Novel RASopathy genes, variants, and animal models were discussed in the context of medication trials and drug development. Attempts to define and measure meaningful endpoints for treatment trials were discussed, as was drug availability to patients after trial completion.