| Literature DB >> 31825160 |
Karen W Gripp1, Lisa Schill2, Lisa Schoyer2, Beth Stronach2, Anton M Bennett3, Susan Blaser4, Amanda Brown5, Rebecca Burdine6, Emma Burkitt-Wright7, Pau Castel8, Sandra Darilek9, Alwyn Dias10, Tuesdi Dyer11, Michelle Ellis2, Gregg Erickson12, Bruce D Gelb13,14, Tamar Green15, Andrea Gross16, Alan Ho17, James Lloyd Holder9, Shin-Ichi Inoue18, Angie C Jelin19, Annie Kennedy20, Richard Klein21, Maria I Kontaridis22, Pilar Magoulas9, Darryl B McConnell23, Frank McCormick8, Benjamin G Neel24, Carlos E Prada25, Katherine A Rauen26, Amy Roberts27,28, Pablo Rodriguez-Viciana29, Neal Rosen17, Gavin Rumbaugh30, Anna Sablina31, Maja Solman32, Marco Tartaglia33, Angelica Thomas34, William C Timmer16, Kartik Venkatachalam35, Karin S Walsh36, Pamela L Wolters37, Jae-Sung Yi3, Martin Zenker38, Nancy Ratner25.
Abstract
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.Entities:
Keywords: Costello syndrome; Noonan syndrome; RASopathy; cardio-facio-cutaneous syndrome; kinases; neurofibromatosis
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Year: 2019 PMID： 31825160 PMCID： PMC7021559 DOI： 10.1002/ajmg.a.61434
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802