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Research Area

Intellectual Disability, Mice, Neurologic Mutants, Neurology

Research Interests

Genetics, Medical, Induced Pluripotent Stem Cells, Molecular Biology

Principle Investigator(s)

Grant(s)

Abstract

Our team focuses on identification and characterization of novel causative genes in rare neurodevelopmental disorders affecting both the central and peripheral nervous systems. These studies are essential in understanding how dysfunctions manifest in neurological pathologies for development of efficient and personalized therapeutic agents. In close collaboration with clinicians, we perform whole-exome sequencing of patient samples to prioritize potentially deleterious genetic variants. We then use genetically modified human cell lines, transformed human neurons, primary mouse cultures and mouse models to validate and understand the identified genetic defects.

Techniques

We perform whole exome sequencing (WES) of undiagnosed patient sample, followed by bioinformatical prioritization of potential causative genetic variants.

We validate novel genes and variants in human cell lines, primary mouse neuronal cultures, and mutant mouse models.

We perform behavioral phenotyping of mutant mouse models, including depression, anxiety, learning and memory, locomotion and nociception.

We develop less invasive and quicker transdifferentiation teqniques of patients cells to generate induced human neurons.