The focus of the activities of the department of Human Genetics at the CNG is the identification and validation of genes implicated in complex human diseases.
The gene identification laboratory studies a large variety of complex human diseases including metabolic disorders, cancer, deafness and inflammatory disorders. The laboratory is principally involved in large-scale replication studies to validate variants from genome-wide association analyses (GWAS) through genotyping and re-sequencing.
Functional genomics studies of the department currently focus on metabolic disorders (cardiovascular disease and disorders of weight management) and cancer research (lung cancer, gliomas). Genome-wide association studies have identified a large number of variants in the human genome associated with common disease phenotypes. However, only in a minority of cases has the functional relevance of variants and/or their relation to the gene(s) in which they reside been shown. The functional genomics laboratory strives to evaluate function of gene variants principally on three levels: gene expression, structural variation of chromatin (CHIP-Seq, FAIRE) and by developing cell-based assays to study particular variants in the living cell.
In addition the department harbors the biological resources laboratory, which includes one of the largest DNA banks in Europe with currently more than half a million DNA samples and accompanying phenotypic data available.