welcome
research groups
genetic services
job opportunities
seminars
contact us
   

The Neurofibromatosis 1 (NF1) research group develop a translational research aimed to improve the NF1 genetic, molecular and cellular knowledge with a special focus in the benign tumours hallmark of the disease, the neurofibromas. Three research lines define the group: genetic studies, functional studies and therapeutic studies. One of the main goals of the genetic studies is to develop new technologies for mutational screening not only for the NF1 gene but also for other cancer syndrome genes; the second goal is to establish genotype-phenotype correlations and search for NF1 modifier genes; and the third is the molecular characterization of the genetic events underlying neurofibroma formation. The functional studies are focused in gain knowledge about the cellular functions of neurofibromin, the protein coded by the NF1 gene. Finally, we work in the development of therapeutic tools to treat NF1. In this sense, we are working in skipping reversion (a common phenomena in NF1). All together define our group as a multidisciplinary research team with a main aim that is translate basic research to the clinic.