A5075023560- Ophthalmology and Visual Impairment Studies
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Visual perception and processing mechanisms
- Pluripotent Stem Cells Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
- Genomic variations and chromosomal abnormalities
- Neuroscience and Neuropharmacology Research
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Advanced Neuroimaging Techniques and Applications
- Genetic Syndromes and Imprinting
- Neural dynamics and brain function
- FOXO transcription factor regulation
Montreal Neurological Institute and Hospital
2020-2025
McGill University
2020-2025
Group for Research in Decision Analysis
2023
Douglas Mental Health University Institute
2021-2022
American University of Sharjah
2020-2021
Abstract Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation impacts same downstream pathways disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and haploinsufficiency disease (SHD), where SGS is caused by too much protein, SHD not enough SETBP1. Using patient sex-matched healthy first-degree...
Heterozygous loss-of-function mutations in Forkhead box G1 (FOXG1), a uniquely brain-expressed gene, cause microcephaly, seizures, and severe intellectual disability, whereas increased FOXG1 expression is frequently observed glioblastoma. To investigate the role of forebrain cell proliferation, we modeled syndrome using cells from three clinically diagnosed cases with two sex-matched healthy parents one unrelated control. Cells heterozygous loss showed significant reduction ratio G0/G1 stage...
Abstract FOXG1 is a critical transcription factor in human brain where loss-of-function mutations cause severe neurodevelopmental disorder, while increased expression frequently observed glioblastoma. an inhibitor of cell patterning and activator proliferation chordate model organisms but different mechanisms have been proposed as to how this occurs. To identify genomic targets neural progenitor cells (NPCs), we engineered cleavable reporter construct endogenous performed chromatin...
Abstract Kabuki syndrome is frequently caused by loss-of-function mutations in one allele of histone 3 lysine 4 (H3K4) methyltransferase KMT2D and associated with problems neurological, immunological skeletal system development. We generated heterozygous knockout patient-derived cell models to investigate the role reduced dosage stem cells. discovered chromosomal locus-specific alterations gene expression, specifically a 110 Kb region containing Synaptotagmin (SYT3), C-Type Lectin Domain...
Visual cortical areas in the adult mammalian brain are linked by a network of interareal feedforward and feedback circuits. We investigated topography projections to ferret (Mustela putorius furo) area 18 from extrastriate 19, 21, Ssy. Our objective was characterize anatomical organization pool 18. also wished determine if share similar features as 17. injected tracer cholera toxin B subunit (CTb) into ferrets visualize distribution pattern retrogradely labeled cells cortex. find several...
Abstract Corticocortical connections link visual cortical areas in both the ipsilateral and contralateral hemispheres. We studied postnatal refinement of callosal linking multiple with ferret area 17 during period from just before eye opening (4 weeks) to 10 weeks age. aimed determine (1) whether projections refine a similar rate (2) parallels that intrahemispheric circuits. injected bidirectional tracer CTb into 17, mapped areal laminar distribution labeled cells hemisphere. Like...