Chemistry/BCMB Seminar

Yana Sandlers, PhD, Associate Professor, Cleveland State University

Application of Mass Spectrometry in Studies of Inherited Metabolic Disorders

During the presentation we will explore the critical role of mass spectrometry in the studies of inherited metabolic disorders, which are a large group of genetic diseases where a metabolic defect leads to the accumulation of toxic substances or a deficiency of essential metabolites. We will discuss the application of advanced mass spectrometry techniques, including Gas Chromatography-Mass Spectrometry (GCMS), LC-Triple Quadrupole (QTRAP), and LC-Quadrupole Time-of-Flight (QTOF), for untargeted metabolomics and metabolites profiling in cellular models. I will present some examples of how these powerful analytical tools are utilized to identify biomarkers and pathways associated with specific conditions, such as Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), Fabry disease, and Barth syndrome. Through examples from our studies, I will demonstrate that mass spectrometry is a vital tool in translational research. These techniques are crucial for gaining a deeper understanding of disease mechanisms, which in turn facilitates development of new therapeutic approaches.

Location: Ruth W. Williams Hall of Life Sciences, Room 060