INDRE Investigation Lines
Identification of risk variants in non-coding regions in epileptic encephalopathies.The human brain evolution has been accelerated since we diverged from apes. Using comparative genomics we have identified non-coding regions in the genome with a high prevalence of epilepsy risk variants. Using comparative genomics in humans , we are workin gin the design of a better platform to advance towards better genetic diagnostic of epileptic encephalopathies, especially in those refractory to drug treatments.
iPSC models -an step towards personalized medecine One of the biggest burdens of the human brain is the lack of reliable models for many of the disease functions. iPSC-derived organoids can overcome many of these caveats. Using patient derived iPSC and/or CRISPR engineering in iPSC we model the neuronal function and we move towards a personalize medecine approach.