NL
DE
11 March 2020
Radboudumc applicants Karlien Coene and Hans Wessels will collaborate with UMD scientists from the UMCs in Amsterdam and Utrecht on the “Turning dazzling data into patient solutions” project that will establish an accessible multi-omics biomarker platform for rare diseases. Next-generation DNA sequencing has increased the number of (recognized) IEM patients and novel treatment strategies are appearing. However, many questions still remain unsolved which can only be answered by applying high quality biomarker research. Complementary omics technologies for analysis of thousands of metabolites, lipids and glycoproteins have been established within the individual UMD centers and will be combined and standardized within this project to establish a unique UMD biomarker platform. In addition to biomarkers for improved diagnostics, this will also provide biomarkers to predict disease progression and treatment response.
A pilot study will be performed that applies the standardized omics workflows for the retrospective and prospective analysis of blood samples of three clinically well-defined patient cohorts with known metabolic disease and a clinical need for improved biomarkers: classical galactosemia, cystinosis and adrenoleukodystrophy. Karlien Coene and her metabolomics team will apply liquid chromatography in combination with high-resolution mass spectrometry to identify and monitor metabolite biomarkers. Hans Wessels and his team will focus on the glycosylation status of proteins by glycoproteomics using the unique ion mobility capabilities of the Bruker timsTOF Pro instrument that was recently acquired by receiving a ZonMW Medium investment grant.
Radboudumc applicants Karlien Coene and Hans Wessels will collaborate with UMD scientists from the UMCs in Amsterdam and Utrecht on the “Turning dazzling data into patient solutions” project that will establish an accessible multi-omics biomarker platform for rare diseases. Next-generation DNA sequencing has increased the number of (recognized) IEM patients and novel treatment strategies are appearing. However, many questions still remain unsolved which can only be answered by applying high quality biomarker research. Complementary omics technologies for analysis of thousands of metabolites, lipids and glycoproteins have been established within the individual UMD centers and will be combined and standardized within this project to establish a unique UMD biomarker platform. In addition to biomarkers for improved diagnostics, this will also provide biomarkers to predict disease progression and treatment response.
A pilot study will be performed that applies the standardized omics workflows for the retrospective and prospective analysis of blood samples of three clinically well-defined patient cohorts with known metabolic disease and a clinical need for improved biomarkers: classical galactosemia, cystinosis and adrenoleukodystrophy. Karlien Coene and her metabolomics team will apply liquid chromatography in combination with high-resolution mass spectrometry to identify and monitor metabolite biomarkers. Hans Wessels and his team will focus on the glycosylation status of proteins by glycoproteomics using the unique ion mobility capabilities of the Bruker timsTOF Pro instrument that was recently acquired by receiving a ZonMW Medium investment grant.
