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

Related Research units

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. © 2014 Wiley Periodicals, Inc.

Bibliographical data

Original languageEnglish
ISSN1552-4825
DOIs
Publication statusPublished - 2015
PubMed 25393061