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Methusalem Grant Holder Geert Mortier

GENOmics in MEDicine (GENOMED): From whole genome sequencing towards personalized medicine

GENOMED is an interfaculty consortium of four research groups and Centre of Excellence at the University of Antwerp. The general aim of GENOMED is to enhance genetic research in biomedical sciences by application of state-of-the-art technologies such as next generation sequencing (NGS), induced pluripotent stem cells (iPSC) and gene editing (CRISPR/Cas). In the past few years, GENOMED has focused on exome sequencing which has led to new gene discoveries but now anticipates that whole genome sequencing (WGS) will become the next standard genetic analysis and an essential step towards personalized medicine. The future research within GENOMED will focus on two major challenges: first, the development of technologies that allow better understanding of the biological meaning of both coding and noncoding genetic variants in the human genome, and second, the translation of these new genetic findings into better diagnostics and treatment. At present, the major bottleneck with NGS is the ability to distinguish causal mutations from benign variants. The study of the functional effect of these variants will be key in the understanding of the disease biology but also necessary for the translation into personalized medicine. It will require robust and efficient systems to explore the functional consequences of these variants by using in vitro cell cultures (especially iPSC) and/or animal models (mouse, zebrafish) that are representative for the human disorder. To address the second challenge, the consortium will establish collaborations with clinicians and industry to transfer genetic knowledge into biomarkers and to translate the new genetic insights into innovative therapies.

Prof. dr. Geert Mortier (Fac. Medicine and Health Sciences, research group Medical Genetics) works as a PI on this project together with co-PIs prof. dr. Frank Kooy (Dept. Biomedical Sciences, research group Cognitive Genetics), prof. dr. Bart Loeys (Fac. Medicine and Health Sciences, research group Medical Genetics), prof. dr. Guy Van Camp (Dept. Biomedical Sciences, research group Human Molecular Genetics) and prof. dr. Wim Van Hul (Dept. Biomedical Sciences, research group Medical Genetics of Obesity and Skeletal Disorders).