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.
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