This webinar will give an overview of diseases resulting from inborn errors of lipid metabolism, in particular disorders related to cholesterol metabolism and transport.
The seminar will cover:
Current mass spectrometry methods used in clinical chemistry and academic research laboratories for sterol and bile acid analysis. How lipidomics in combination with genomics can identify rare metabolic disorder and characterise variants of uncertain significance, i.e. a genetic change yet to be known to be harmless or disease causing. I will also give an example of how lipidomics is used in monitoring response to hematopoietic stem cell transplant in Wolman disease.