Neurofibromatosis type 1: Future directions (where do we go from here?)

Abstract

Two decades of modern molecular research on NF1 has provided unprecedented advances in our understanding of the neurofibromatosis type 1 gene, its protein neurofibromin, and its functions in the complexity that defines this disease. Despite this, the translation of this information into significant patient care enhancement has lagged. Today, the field is on the cusp of overturning this delay with the revolutionary breadth and depth of research findings that will in the near future culminate in the availability of meaningful new therapies for many aspects of NF1 disease. In so doing, the promise held by the cloning of the NF1 gene and its utilization in the development of physiologically relevant animal models will be fulfilled.