RASopathy/Neurofibromatosis Genetic Clinic

Genetic evaluation of individuals with RASopathies and neurofibromatoses

The RASopathy/Neurofibromatosis Genetic Clinic is regularly held and run by Dr. David A. Stevenson. 

The RASopathies are a group of disorders due to genetic changes in genes that interact with the RAS/MAPK signal transduction pathway.  The RASopathies represent one of the largest groups of genetic syndromes with a combined prevalence of ~1/1000. 

Neurofibromatosis type 1 (NF1) is one of the most common RASopathy.  As part of the NF Clinic other tumor predisposition conditions are included such as neurofibromatosis type 2 and schwannomatosis.

The RASopathy/NF Genetic Clinic focuses on genetic evaluation of individuals with RASopathies and the neurofibromatoses including:

  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Schwannomatosis
  • Noonan syndrome
  • Costello syndrome
  • Cardiofaciocutaneous (CFC) syndrome
  • Legius syndrome
  • Multiple lentigines (LEOPARD) syndrome

Dr. Stevenson works closely with multiple specialists, including Dr. Cynthia Campen in neurooncology who co-directs the pediatric Neurofibromatosis Clinic, for coordination of care of the various manifestations of the various conditions.  Ellyn Farrelly is a certified genetic counselor who provides genetic counseling for the clinic.