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Introduction
In the past 15 years, the VRC has become a leader in the field of functional genomics using various small animal models (i.e. in mice, zebrafish and tadpoles). An important objective of the VRC is translating the genetic findings in these small animal models to humans. Thus, it is important that the role and relevance of a disease candidate gene, identified in a particular model organism, is confirmed in humans – this is especially the case when unexpected phenotypes are encountered. Human genetics are a powerful tool to bridge the gap between small animal models and humans and to evaluate the role of the target gene in human disease (gene candidate-driven approach) – this approach is the most complementary to the technologies available in our laboratory. Alternatively, the VRC will explore, in the future, the potential of gene discovery by using state-of-the-art genetic technologies (such as via a genome-wide scan for complex diseases).
Initiatives
In order to validate and translate biological findings from model organisms to findings with a significant medical impact for humans, we are currently devoting many efforts to provide access to state-of-the-art human genetic research tools, technologies and expertise in our institute.
The University Hospital Leuven (UZ Leuven), which is located nearby the KULeuven ‘Onderwijs & Navorsing’ campus (where also the VRC is located), has a particularly strong and longstanding reputation as Belgium’s number one ‘tertiary’ care academic hospital (600,000 consultations per year, employing over 8,000 people), thus providing the ideal environment to perform state-of-the-art human genetic studies. As a result, we have now initiated collaborations with many UZ clinicians to collect tissue samples for expression profiling (plasma, tissue) and DNA analysis. For instance, we are collecting DNA and vitreous samples from patients with age-related macular degeneration and diabetic retinopathy (in collaboration with I. Stalmans); DNA, plasma and tumor samples from patients with colorectal cancer (in collaboration with E. Van Cutsem) and DNA from preterm infants and their mothers (in collaboration with H. Devlieger & A. De Beer).
As state-of-the-art genomic technologies are providing the cornerstones of genetic research, we will invest in SEQUENOM’s MassARRAY® technology. This technology will allow us to perform high-throughput SNP genotyping: SEQUENOM’s iPLEX technology efficiently multiplexes up to 40 different SNP assays in one reaction, and provides very effective and accurate SNP fine mapping studies at a very low price (the cost per SNP genotype for KUL clients will be below 5 euro cents). At a 100% occupancy, SEQUENOM will be able to genotype up to 12,400,000 SNPs per year. In addition, SEQUENOM also offers a MassARRAY EpiTYPER technique for quantitative DNA methylation analysis, as well as multi-plexed MassARRAY gene expression analysis (multiplexing of 10-200 genes is feasible) and MassARRAY Copy Number Variation analysis for the determination of copy number variations (to be launched by the end of 2007, personal communication M. Plant, executive sales manager, Sequenom).
We will also invest in expert-driven scientific support, which personnel-wise will consist of a technician (for his/her practical experience in preparation and handling of samples), an industrial engineer (for SEQUENOM’s multiplex design, data handling and downstream statistical analysis) and a scientific expert-geneticist (Diether Lambrechts). This expertise will foster the research projects at the VRC, but will also be available to other research groups. The VRC will support designing and analyzing case/control association studies, family-based association studies (transmission-disequilibrium testing, discordant sibpairs) and meta-analysis of case/control and family-based association studies. Gene prioritization tools (such as, for instance, Endeavour, Aerts et al, Nat Biotech 2006) will also be available. In addition, this group of people will invest in new expertise in other genetic technologies (for own research purposes, but also for other research groups).
Leuven human Genetic Facility
Sequenom’s MassARRAY is the current leading technology for analyzing genetic variations. It quickly and cost-effectively analyzes genetic variations with the highest level of accurancy and offers a huge throughput capacity of up to 100,000 genotyped SNPs per day, which is sufficient to meet the increasing demands of KULeuven geneticists. Our Sequenom's MassARRAY genotyping platform will be part of the Leuven Human genetic facility, which is currently being set-up together with J. Vermeesch and B. Destrooper. |
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Core Facilities 
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