Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

Katherine A. Rauen, Susan M. Huson, Emma Burkitt-Wright, D. Gareth Evans, Said Farschtschi, Rosalie E. Ferner, David H. Gutmann, C. Oliver Hanemann, Bronwyn Kerr, Eric Legius, Luis F. Parada, Michael Patton, Juha Peltonen, Nancy Ratner, Vincent M. Riccardi, Thijs van der Vaart, Miikka Vikkula, David H. Viskochil, Martin Zenker, Meena Upadhyaya

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies.

Original languageEnglish (US)
Pages (from-to)1-10
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number1
DOIs
StatePublished - Jan 1 2015

Keywords

  • Capillary malformation-AV malformation syndrome
  • Cardio-facio-cutaneous syndrome
  • Costello syndrome
  • Legius syndrome
  • Neurofibromatosis
  • Noonan syndrome
  • RASopathy
  • Ras/MAPK
  • Signal transduction pathway
  • Therapy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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