Dr. Stephanie Cologna

Seminar Details

Host: BGA

Time: 4:00pm-5:00pm

Location: BICH 108

Seminar Abstract

Mass spectrometry has become a leading technology in the identification and quantification of biomolecules across varying sample types and in health and disease states. Our laboratory studies two rare, genetic human disorders. Niemann-Pick Type C (NPC) disease, is a fatal neurodegenerative disorder that arises from cholesterol storage in endo/lysosomal compartments. Glycogen Storage Disease Type III (GSD III), arises from an inability to break down glycogen resulting in storage along with muscle, liver and cardiac impairment. An overarching goal of my laboratory has been to develop novel biomarkers that can be used to better understand both NPC and GSD III. Moreover, we are interested in identifying markers that can be followed in future clinical trials. Using mass spectrometry-based technologies, we have identified key proteins and lipids that reflect dysregulation in both disorders and can be used in studies to support our overarching goal.