
Stephanie Cologna
Assistant Professor at UIC
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Integrating Proteomics and Lipidomics to Understand Niemann-Pick Disease, Type C
ABSTRACT:
Mass spectrometry has emerged as a leading technology for biomarker discovery and to identify altered pathways in human diseases. Our laboratory studies Niemann-Pick Disease, Type C (NPC), a fatal, genetic, neurodegenerative disorders. Using combined approaches including mass spectrometry-based quantitative proteomics, lipidomics and lipid imaging, we have identified new markers of NPC and mapped altered lipids in brain tissue from the NPC mouse models. These markers provide insight into the biochemical alterations occurring following the primary genetic defect and can be used in future drug discovery studies.