<br />Dr. Nagy's research focuses on the role of transcriptional processing in the pathogenesis of neurodegenerative disorders. He developed S. pombe and M. musculus models for Ataxia-Oculomotor-Apraxia type 2 (AOA2) caused by mutations in the human ortholog of the yeast RNA helicase Sen1, Senataxin (SETX). Using these models they are working to define the pathomechanism of SETX mediated neurodegenerative disorders. They are also investigating the pathogenesis of ALS caused by C9orf72 expansions and search for novel ALS causing or modifying genetic variants.
In Dr. Nagy's research, he combines the tools of classical biochemistry and genetics with genomics, most importantly next-gen sequencing for mutation discovery, transcriptome analysis and the identification of novel protein RNA interactions.
<br />His clinical interest is the development and use of genome-scale sequencing assays in the clinical diagnosis of constitutional disorders and cancer such as :
<br /> * Mitochondrial Genome Sequencing Test
<br /> * Columbia Combined Genetic Panel (1300 genes most commonly associated with genetic disorders)
<br /> * Whole Exome Sequencing Tests for Constitutional Disorders and Cancer.