The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Am J Med Genet A. 2016 Aug;170(8):1959-66. doi: 10.1002/ajmg.a.37723. Epub 2016 May 7.

Abstract

The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field. © 2016 Wiley Periodicals, Inc.

Keywords: RASopathy; Ras/MAPK; cancer; clinical trials; experimental models; rare disorders.

Publication types

  • Congress

MeSH terms

  • Capital Financing
  • Clinical Trials as Topic
  • Family
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism*
  • Humans
  • Intersectoral Collaboration
  • Mitogen-Activated Protein Kinases / genetics
  • Mitogen-Activated Protein Kinases / metabolism*
  • Signal Transduction*
  • ras Proteins / genetics
  • ras Proteins / metabolism*

Substances

  • Mitogen-Activated Protein Kinases
  • ras Proteins