The sixth international RASopathies symposium: Precision medicine—From promise to practice: American Journal of Medical Genetics, Part A

K.W. Gripp, L. Schill, L. Schoyer, B. Stronach, A.M. Bennett, S. Blaser, A. Brown, R. Burdine, E. Burkitt-Wright, P. Castel, S. Darilek, A. Dias, T. Dyer, M. Ellis, G. Erickson, B.D. Gelb, T. Green, A. Gross, A. Ho, Jr. Holder J.L.S.-I. Inoue, A.C. Jelin, A. Kennedy, R. Klein, M.I. Kontaridis, P. Magoulas, D.B. McConnell, F. McCormick, B.G. Neel, C.E. Prada, K.A. Rauen, A. Roberts, P. Rodriguez-Viciana, N. Rosen, G. Rumbaugh, A. Sablina, M. Solman, M. Tartaglia, A. Thomas, W.C. Timmer, K. Venkatachalam, K.S. Walsh, P.L. Wolters, J.-S. Yi, M. Zenker, N. Ratner

Research output: Contribution to journalArticlepeer-review

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. © 2019 Wiley Periodicals, Inc.
Original languageEnglish
Pages (from-to)597-606
Number of pages10
JournalAm. J. Med. Genet. Part A
Volume182
Issue number3
DOIs
Publication statusPublished - 2020

Keywords

  • cardio-facio-cutaneous syndrome
  • Costello syndrome
  • kinases
  • neurofibromatosis
  • Noonan syndrome
  • RASopathy
  • 2 (2 chloro 4 iodoanilino) n cyclopropylmethoxy 3,4 difluorobenzamide
  • 2 morpholino 8 phenylchromone
  • acetylcysteine
  • bi 1701963
  • bi 2852
  • bi 3406
  • dasatinib
  • dexamethasone
  • mitogen activated protein kinase kinase inhibitor
  • protein inhibitor
  • selumetinib
  • shp 099
  • tipifarnib
  • trametinib
  • unclassified drug
  • mitogen activated protein kinase kinase
  • Ras protein
  • clinical feature
  • Conference Paper
  • drug efficacy
  • drug half life
  • drug potency
  • drug response
  • drug sensitivity
  • drug targeting
  • drug tolerability
  • gene
  • gene function
  • gene mutation
  • genetic disorder
  • genetic variability
  • haploinsufficiency
  • head and neck squamous cell carcinoma
  • histiocytosis
  • human
  • Langerhans cell histiocytosis
  • malignant peripheral nerve sheath tumor
  • medical research
  • neurofibroma
  • nonhuman
  • pathogenicity
  • patient advocacy
  • personalized medicine
  • prenatal diagnosis
  • priority journal
  • quality of life
  • solid malignant neoplasm
  • squamous cell carcinoma
  • SYNGAP1 gene
  • thyroid cancer
  • unspecified side effect
  • genetics
  • germline mutation
  • pathology
  • signal transduction
  • Genetic Diseases, Inborn
  • Germ-Line Mutation
  • Humans
  • Mitogen-Activated Protein Kinase Kinases
  • ras Proteins
  • Signal Transduction

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