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Early Stage Researchers

Marc
Pauper

Project: Strategies for molecular diagnosis of Rare Disease patients through integrated analysis of multi-omics data

NATIONAL CENTER FOR GENOMIC ANALYSIS (CNAG-CRG)

Barcelona

Spain

7/15

About Marc

My academic training started with a BSc in Biology (at the Aristotle University of Thessaloniki, Greece), and was followed with a MSc in Bioinformatics (at Wageningen University, Netherlands). Before taking on this PhD project I worked for a few years at the Radboud University Medical Center of Nijmegen (Netherlands) as a bioinformatics specialist in the Genome Diagnostics team, acquiring a strong background on human genomics and production bioinformatics in the context of patient healthcare.
In this PhD project I am bringing my motivation for diagnostics to develop strategies for the molecular diagnosis of rare disease patients using integrated multi-omics data. Rare diseases are individually rare but collectively affect more than 350 milling people worldwide. These patients are usually stuck in a «diagnostic odyssey» and have severely shortened life expectancy. I am excited to use my skills in genomics and learn more about proteomics, other omics and data integration to improve the diagnosis of unresolved rare diseases.
In my free time I enjoy various things, such as reading, walking and playing with my dog, hiking, camping, having drinks with friends and playing boardgames!