2015

Taking Flight Award

Modeling Epileptic Encephalopathies In Human Brain

Gaia Novarino, PhD
Institute of Science and Technology, Austria
 

Early infantile epileptic encephalopathies (EIEEs) are a group of devastating disorders characterized by intractable seizures, global developmental delay and intellectual disability. EIEEs are highly genetic, meaning that often a genetic mutation is the basis of the disorder, however, in most of the cases the underlying mutation is very rare. Recent data suggest that distinct EIEEs may converge along specific molecular pathways. Can we identify these points of convergence? We aim to employ human “mini brains” to compare the effect of a large number of genetic mutations and identify points of intersection between distinct forms of EIEEs. The identification of these molecules will be the basis of future studies aiming to develop novel treatments.

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