Profile
My research is focusing on understanding the cellular and molecular mechanisms of neurological and neurodevelopmental disease with particular emphasis on developmental epileptic encephalopathies, microcephaly, myelin disorders, ataxia and rare genetic diseases by leveraging mouse models and human brain organoids. We use primary cells (Neural Stem Cells, Neurons and Oligodendrocytes), conditional mouse models and human brain organoids (derived from CRISPR edited ESCs or patient derived iPSCs) as model systems to dissect the cellular (cell autonomous and non-cell autonomous) and molecular events that intricate in brain physiology, and disease progression. To achieve this my laboratory leverages cutting-edge techniques (Proximity ligation, Mass Spectrometry, RNA-Seq, Chip-Seq and Proteomics) to comprehensively understand the risk factors and leading mechanisms contributing to disease progression and find possible therapeutic interventions by regenerative medicine approaches.
Current Focus Areas
The current research focus aims to understand the molecular mechanisms of neurodevelopmental diseases with microcephaly, epilepsy and hypomyelination using mouse models and human brain organoids derived either from CRISPR edited ESCs or patient iPSCs
Selected Publications
1. Repudi S, Irina K, Sara AS, Shani S, Aqeilan RI. Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes (2021), EMBO Molecular Medicine, 13 (12), e14599. 2. Steinberg DJ, Repudi S, Saleem A, Kustanovich I, Viukov S, Abudiab B, Banne E, Mahajnah M, Hanna JH, Stern S, Carlen PL, Aqeilan RI. Modeling genetic epileptic encephalopathies using brain organoids (2021), EMBO Molecular Medicine, 13 (8), e13610. 3. Repudi S, Steinberg DJ, Elazar N, Breton VL, Aquilino MS, Saleem A, Abu-Swai S, Vainshtein A, Eshed-Eisenbach Y, Vijayaragavan B, Behar O, Hanna JH, Peles E, Carlen PL, *Aqeilan RI. Neuronal deletion of Wwox, associated with WOREE syndrome, causes epilepsy and myelin defects (2021), Brain, 144, 3061-3077. 4. Breton VL, Aquilino MS, Repudi S, Saleem A, Mylvaganam S, Abu-Swai S, Bardakjian BL, Aqeilan RI, Carlen PL. Altered neocortical oscillations and cellular excitability in an in vitro Wwox knockout mouse model of epileptic encephalopathy (2021), Neurobiology of Disease, 160, 105529.