About this event
Explore the forefront of neuroscience with the LCSB Neuroscience Lecture Series, featuring scientific presentations from internationally renowned experts in various disciplines of neuroscience.
Meet the speaker! One-on-one meeting opportunities with the speaker can be arranged by emailing Murielle Moes.
Advancing Clinical Metabolomics for the Diagnosis, Understanding and Management of Metabolic Disorders
Metabolomics, the comprehensive study of small-molecule metabolites, is emerging as a powerful tool in biomedical research and clinical diagnostics. Enabled by technologies such as mass spectrometry and advanced bioinformatics, metabolomics provides deep insights into metabolic pathways and disease mechanisms. Its integration into clinical workflows is transforming the diagnosis of inborn metabolic disorders and supporting the interpretation of genomic variants. In this lecture we will focuses on three aims: (1) developing and scaling metabolomics-based diagnostics for metabolic diseases; (2) identifying and validating biomarkers for therapy monitoring in rare disease cohorts; and (3) using metabolomics and fluxomics to understand disease mechanism. This talk will highlight disorders of the malate-aspartate shuttle, a key mitochondrial mechanism enabling NADH transfer from the cytosol to the mitochondrial matrix for oxidative phosphorylation. Disruption of this shuttle impairs energy metabolism, contributing to severe neurological disorders. Disease mechanisms, clinical manifestations, and emerging diagnostic insights will be discussed. Our results demonstrate the growing clinical utility of metabolomics and its potential to reshape the landscape of rare disease diagnosis and management.
About the speaker
Judith Jans directs the section Metabolic Diagnostics at the University Medical Center Utrecht. As associate professor, her research focuses on clinical metabolomics and is dedicated to developing and implementing innovative metabolomics in diagnostic care. Jans’s lab uses metabolomics to discover novel metabolic diseases and study their pathophysiology, focusing specifically on diseases related to the malate-aspartate shuttle and hereditary anemias.
The Neuroscience Lecture Series is supported by the Schick Foundation.
