18 June 2020

The Metakids foundation has awarded 220.575 Euro to support the establishment of a multi-omics biomarker platform within the United for Metabolic Disease (UMD) consortium. The UMD aims to translate innovative research and technology into improved diagnosis and treatment for inherited metabolic diseases.

The UMD comprises six Dutch academic metabolic centers including Radboudumc as well as the Dutch umbrella patient organization ‘Volwassen, Kinderen en Stofwisselingsziekten’ (VKS). As a part of this collaboration, a Data Task Force has been established to build a UMD-wide infrastructure for exchange of clinical and molecular data. 

Purva Kulkarni is heading the bioinformatics on molecular omics data and can now appoint a postdoctoral fellow for three years. The project involves establishment of a UMD-wide infrastructure for data exchange, in close collaboration with the X-omics initiative (Center for Molecular and Biomolecular Informatics, led by Peter-Bram ‘t Hoen). Secondly, the project involves harmonizing data interpretation pipelines between UMD centers and establishing bioinformatic solutions for interpretation of multi-omics datasets of metabolic disease patient cohorts.

Purva Kulkarni is part of the research theme Metabolic disorders and establishes her own group in bioinformatics of mass spectrometry based -omics data to improve rare disease diagnostics and therapy monitoring.
 

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