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.
Related news items
New genetic defect links cell biology and protein glycosylation10 November 2021
Peter Linders, Dirk Lefeber and Geert van den Bogaart together with international colleagues have recently reported on novel cell biological insights, by identifying a genetic disorder in syntaxin-5 which allowed to unravel a new mechanism regulating intracellular transportation.read more
Miniaturized microfluidic platform for automated epigenetic profiling6 May 2021
Together with Fluidigm, a US-based company focusing on microfluidics, the team of Hendrik Marks publishes in Genome Research the development of a powerful plug and play ChIP-seq platform for minute amount of cells, such as embryonic specimens or small biopsies.read more
Front cover Human Mutation21 August 2019
The MetaDome web server build to interpret genetic variants based on genetic tolerance and homologous protein domains is featured on the Cover of Human Mutation. MetaDome was developed by Laurens van de Wiel, Coos Baakman, Daan Gilissen, Joris Veltman, Gert Vriend and Christian Gilissen,read more