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

Am J Med Genet A. 2020 Mar;182(3):597-606. doi: 10.1002/ajmg.a.61434. Epub 2019 Dec 11.


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.

Keywords: Costello syndrome; Noonan syndrome; RASopathy; cardio-facio-cutaneous syndrome; kinases; neurofibromatosis.

Publication types

  • Congress
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / pathology
  • Germ-Line Mutation / genetics
  • Humans
  • Mitogen-Activated Protein Kinase Kinases / genetics*
  • Signal Transduction / genetics
  • ras Proteins / genetics*


  • Mitogen-Activated Protein Kinase Kinases
  • ras Proteins