The sixth international RASopathies symposium: Precision medicine—From promise to practice
Gripp, Karen W.; Schill, Lisa; Schoyer, Lisa; Stronach, Beth; Bennett, Anton M.; Blaser, Susan; Brown, Amanda; Burdine, Rebecca; Burkitt-Wright, 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, Shin Ichi; 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; Rodriguez-Viciana, 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, Jae Sung; Zenker, Martin; Ratner, Nancy
(2020) American Journal of Medical Genetics, Part A, volume 182, issue 3, pp. 597 - 606
(Article)
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.
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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.
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Keywords: cardio-facio-cutaneous syndrome, Costello syndrome, kinases, neurofibromatosis, Noonan syndrome, RASopathy, Genetics, Genetics(clinical)
ISSN: 1552-4825
Publisher: Wiley-Liss Inc.
Note: Funding Information: In addition to the NIH (1R13TR002780-01), the meeting was financially supported by an anonymous donor; the National Cancer Institute; IGIA pharmaceuticals; KURA oncology; Boehringer Ingelheim; Prevention Genetics; UAB School of Medicine; Children's Tumor Foundation; and International Costello Syndrome Support Group. Linda de Vries and David Chitayat contributed to planning the presentation given by Susan Blaser. Funding Information: In addition to the NIH (1R13TR002780‐01), the meeting was financially supported by an anonymous donor; the National Cancer Institute; IGIA pharmaceuticals; KURA oncology; Boehringer Ingelheim; Prevention Genetics; UAB School of Medicine; Children's Tumor Foundation; and International Costello Syndrome Support Group. Linda de Vries and David Chitayat contributed to planning the presentation given by Susan Blaser. Publisher Copyright: © 2019 Wiley Periodicals, Inc.
(Peer reviewed)