Vanja Nagy, PhD
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
Department(s): Department of Neurology (Department of Neurology)
Position: Research Assistant
Location: Währinger Gürtel 18-20, 1090 Vienna
Further information: https://rud.lbg.ac.at/en/molecular-neurobiology
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Intellectual Disability, Mice, Neurologic Mutants, Neurology
Genetics, Medical, Induced Pluripotent Stem Cells, Molecular Biology
Rare Neurodevelopmental Disorders
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.
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.
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