The correlation of gene mutations and disease provided by the genetic group provides the roadmap towards the understanding of the pathogenesis of the disorder, but requires neurobiological investigations to delineate the mechanisms and the therapeutic strategies that can be designed upon these mechanisms. The development of genetic models, accurately reproducing pathological alterations, is critical in building the bridge from genetic discovery to therapeutic treatment.
Once we have the animal model, we have to provide a wide range of information: from behavioral aspects that can reproduce the human symptomatology, to alterations in neuronal activity and physiology underlying these behaviors.
Ultimately, our goal is to provide a reliable model in which to test specifically targeted, new therapeutics. We do this by collaborating and integrating with the other teams at CAN. The genetic group provides the rationale for animal models development; the behavioral, electrophysiological and pharmacological characterizations represent a continuum in the study of a specific mechanism in the brain; and the molecular biology and biochemistry answers the questions arising from our work elucidating the subcellular pathways affected and their role in the neuronal physiology.