Laboratory of Genomic Variation and Genetic Epidemiology
The Laboratory of Genomic Variation and Genetic Epidemiology was founded in 2015 (ΦΕΚ 1532 τ. Β’/21-07-2015). The Laboratory is co-housed and its members closely collaborate with the Laboratory of Population Genetics and Evolution (founded in 2002). The Laboratory’s focus is on the study of biological mechanisms at the genetic and molecular level on two main axes: biomedical research, with an emphasis on rare and common human diseases, and the study of biodiversity, through the use of bioinformatics tools for the analysis of genetic diversity data at the organismal and population level (population genetics). In the field of biomedical research, the members of the Laboratory are engaged in the study and understanding at the genetic and molecular level of mechanisms that lead to the occurrence of pathological conditions in humans (identification and investigation of genetic variants, study of variants of unknown/uncertain clinical significance, transcriptomic analysis of genes carrying pathogenic/potentially pathogenic variants), either in rare hereditary disorders or in multifactorial diseases with a genetic basis, using both classical and advanced analysis technologies for the detection of genetic and molecular markers. As a result of long-term international collaborations and funding by its past and present members, the Laboratory maintains a biobank of biological and genetic material samples from pediatric patients with a rare neurodevelopmental phenotype, as well as patients with rare and common multifactorial diseases. A key element of the progress of the work carried out in the Laboratory is the collaboration with clinical scientists. In the field of biodiversity, the members of the Laboratory work on population and evolutionary genetics, the development of molecular, statistical and bioinformatic tools for the research of genetic diversity and the mechanisms of adaptation of plant species at the genome level. In addition, through collaborations and funding, the Laboratory maintains a biobank of biological and genetic material of endemic plant species of Northern Greece. The Laboratory supports the educational needs of a significant number of related undergraduate courses, such as "Evolutionary Biology", "Population and Evolutionary Genetics", "Genetics I", "Laboratory Course VII: Application of Genetics", "Biostatistics", "Molecular Biology and Genetics of Plants", and others, while it actively participates in research programs in the field of Population and Evolutionary Genetics. Faculty members of the Laboratory coordinate the Department’s Master’s Program on “Applied Bioinformatics –Biological Data Analysis” and teach in a significant number of postgraduate courses.
