The genes and diseases research group is a CRG (Centre for Genomic Regulation) research group that is associated with IMIM. The overall goal of our research is to understand the role of putative candidate genes for human complex genetic diseases that affect cognitive systems, using genetically modified mouse models as our main experimental tool. The characterization of these models allows obtain better knowledge of the genetic substrates regulating the expression of complex behavioral traits and the pathogenesis of neuropsychiatric and neurological disorders.
Understanding the genetic and neural circuits disturbed in mental retardation and neuropsychiatric disorders is one of the significant challenges in ultimately treating it. Answers may emerge from systems neuroscience approaches that combine cognitive, imaging, and genetic analyses with the results from animal and cellular models. Our results have already led to one patent and a clinical assay (phase I).
During the last years our group has contributed significantly to research into cognitive processes and their relationship to brain function in neuropsychiatric disorders and mental retardation. The work has been relevant to the translation of research from basic behavioral science and integrative neuroscience, to clinical issues. By taking validated mouse models of human developmental cognitive disorders such as Down syndrome we have devised fundamental problems related to synaptic plasticity in these models and have devised new therapeutic strategies to rescue learning and memory, and delineate the cellular and molecular correlates of effective therapies and their mechanistic interrelations. The true value of our studies lies in the systematic and wide-angled approach that has lead to an integrated overview of the mechanisms underlying (different forms) of memory.
From the translational angle, the added value of her project relies in the fact that a pilot study in humans has been already performed based on our basic research.
Concretely the group has contributed to characterize the functional and structural organization of the cognitive networks in Down syndrome (DS) models and the mechanistic aspects underlying the neuropathology. There are a number of mouse models of DS that replicate some of the cognitive and behavioral alterations of DS humans (for a review see Lott and Dierssen 2010). However, the link between the genetic and neuronal basis of the alteration and the corresponding behavioral and cognitive phenotype is still missing.