The sixth international RASopathies symposium: Precision medicine—From promise to practice

Karen W. Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach, Anton M. Bennett, Susan Blaser, Amanda Brown, Rebecca Burdine, Emma Burkitt-Wright, Pau Castel, Sandra Darilek, Alwyn Dias, Tuesdi Dyer, Michelle Ellis, Gregg Erickson, Bruce D. Gelb, Tamar Green, Andrea Gross, Alan Ho, James Lloyd HolderShin Ichi Inoue, Angie C. Jelin, Annie Kennedy, Richard Klein, Maria I. Kontaridis, Pilar Magoulas, Darryl B. McConnell, Frank McCormick, Benjamin G. Neel, Carlos E. Prada, Katherine A. Rauen, Amy Roberts, Pablo Rodriguez-Viciana, Neal Rosen, Gavin Rumbaugh, Anna Sablina, Maja Solman, Marco Tartaglia, Angelica Thomas, William C. Timmer, Kartik Venkatachalam, Karin S. Walsh, Pamela L. Wolters, Jae Sung Yi, Martin Zenker, Nancy Ratner

Research output: Contribution to journalArticle

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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusAccepted/In press - Jan 1 2019

Keywords

  • cardio-facio-cutaneous syndrome
  • Costello syndrome
  • kinases
  • neurofibromatosis
  • Noonan syndrome
  • RASopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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