The project aims to leverage multi-omics to enhance diagnostics of Inborn Errors of Metabolism. These rare genetic disorders can be life-threatening, especially in the newborn and early childhood periods, and often incur significant long-term complications. During the three-year project, an interdisciplinary team under the lead of Matthias Baumgartner, Sean Froese, Patrick Pedrioli, Nicola Zamboni, and Sandra Goetze will analyze a substantial number of patient samples from a biobank that have been collected over the past 30 years. By integrating genomic, transcriptomic, proteomic, and metabolomic data, the consortium aims to improve both the speed and accuracy of diagnoses while providing deeper insights into the underlying mechanisms of disease development.
We appreciate the generous support of the Helmut Horten Foundation to realize RAINDROP’s translational potential and its importance in advancing precision medicine for children with rare genetic disorders.
For further questions please contact:
Dr. Sandra Goetze, SMOC-Coordinator
Email: smoc@ethz.ch
Homepage: http://smoc.ethz.ch/
SMOC Coordinator & Head of Proteomics