Neurodevelopmental Disorders and Drug-Resistant Epilepsy
Study of the genetic and molecular mechanisms underlying brain disorders, with a particular focus on drug-resistant focal epilepsy and its clinical implications.
Genetics and Biomarkers
Identification of genetic biomarkers associated with surgical outcomes in patients with drug-resistant epilepsy, using multiomic approaches to better understand genetic variability and predict therapeutic responses.
Liquid Biopsy and cfDNA Analysis
Study of somatic variants in pre-operative cerebrospinal fluid using advanced techniques such as digital PCR MAP16 assay, to confirm somatic mutations related to focal epilepsy and cortical malformations.
Computational Genomics
Bioinformatics analysis for the identification and interpretation of low-frequency somatic variants across different biological tissues, such as blood and brain samples, in patients with drug-resistant epilepsy undergoing surgical interventions.
