Complex Genetic Traits Platform
Improvements in genotyping technologies have greatly facilitated the study of DNA variations in large size samples, allowing the association of the genetic patterns to different clinical phenotypes. The aim of the Genetics of complex traits Research Group is to study the independent and/or interactive contribution of genetic factors in human pathology, either with genome-wide approaches or with focused approaches on candidate genes or molecular pathways.
Clinicians, biologists, biotechnologists and bioinformatics work in this Research Group. Apart from basic equipment for genomic research, the laboraory has an Illumina BeadStation 500GX that allows the production of a big amount of genetic information for DNA studied. Such a huge number of data needs a suitable bioinformatic support for its acquisition, organization, storage and analysis that is available in the lab. Collaborations with academic institutions (University of California, Irvine, Broad Institute Boston) are underway.
Platform Description. Illumina platform 500GX is an innovative technology (BeadArray technology) for the study of genetic variability and gene expression profiles. Beadarray technology is based on 3-micron silica beads assembled either on optic fibers bundles or on planar silica slides. The beads are covered with oligonucleotides which capture the sequences identified in one of the Illumina assays. Beadarray technology uses 96-sample array matrix or BeadChips. 96-sample array Matrix is used for Golden Gate genotyping assay and for gene expression studies (DASL) in paraffin-embedded tissues. BeadChips are used for Infinium genome wide assay. Golden Gate is a custom assay which allows to study up to 1536 SNPs for each DNA, Infinium can analyze 300.000 or 550.000 SNPs simultaneously. Both Infinium assays have a high Tag SNPs content together with nsSNPs and SNPs in MHC.
Areas of Research
The research group of the Complex Genetic Traits laboratory are studying the independent and/or iteractive genetic factors of human diseases using a genome-wide approach based on genes and molecular pathways specific to clinical conditions. This group contains clinicians, geneticists, biologiests, biotechnologists and bioinformaticians.
Scientific Directors
Prof. Daniele Cusi, Full Professor in Nephrology at the Department of Science and Biomedical Technologies, Milan University: Genetics of cardiovascular disease.
Prof. Fabio Macciardi, Associate Professor of Medical Genetics at the Department of Science and Biomedical Technologies, Milan University: Statistical analysis and bioinformatics, Genetics of central nervous system diseases, Genetics of complex disease.
Prof. Cristina Barlassina, Researcher at the Dipartment of Science and Biomedical Technologies, Milan University: Genetics of cardiovascular disease.
Prof. Cristina Barlassina with a coworker