BIOMEDICINE. Basic investigation, 2021
TO “NALCN IN NEURODEVELOPMENTAL DISORDERS”
Fundacion BBVA supports the research on NALCN dysfunction in neurodevelopmental disorders to help improve the treatment and quality of life of people affected by NALCN channelopathies. This proposal will be led by Isabel del Pino Pariente, who is head of the research group at the Príncipe Felipe Research Center (CIPF), Spain. See more
Ultrarare syndromes of infantile encephalopathy such as CLIFHADD and IHPRF1 syndromes are channelopathies caused by aberrant expression in the NALCN gene during development.
This proposal will take advantage of innovative genetic strategies through which researchers now can model NALCN dysfunction in the cerebral cortex. This proposal allows, for the first time, to examine how loss and gain of function of NALCN influence cortical development in IHPRF1 and CLIFHADD respectively.
This is a new, original angle that will pioneer the basic research on the neural circuit basis of cognitive dysfunction typical of this ultra-rare disorders for which there are no experimental tools available so far.
The project represents a stepping stone for the rational design of personalized therapeutic strategies that target NALCN dysfunction, associated to CLIFHADD and IHRPF1 but also to major neurological disorders such as schizophrenia.
Indeed, an additional goal in the proposal is to test whether an ion channel blocker that shows preliminary efficacy in off-label clinical use can be employed in both our CLIFHADD and IHPRF1 preclinical models.
Isabel del Pino, Phd
Isabel del Pino Pariente (Valencia, 1982) is head of the research group at the Príncipe Felipe Research Center (CIPF). He investigates the neurobiological bases of neurodevelopmental diseases, such as intellectual disability or schizophrenia. Using mice as animal models have revealed how genetic predisposition to neurodevelopmental diseases influences the formation of neuronal circuits in the cerebral cortex, their function, and cognitive performance. Before taking his current position he has done research at the Max Planck Institute for Brain Research (Germany); the Institute of Neurosciences of Alicante; King’s College, London; and the Neurocentre Magendie of the University of Bordeaux (France). See more