Welcome to the Laboratory of Human Genome Variation at MBG DUTH

Programmes and Partnerships

We study the genetics of complex disorders as well as population structure and linkage disequilibrium patterns of the human genome across worldwide populations.         

Population Genetics and Population Structure

Towards the first goal, of studying human genetic variation around the world, we have been interested both in answering questions pertaining to human evolution and the migration patterns of the human population across the globe, as well as applications of population genetics in medical genetics. Based on the strong belief that inter-disciplinary approaches are necessary in order to produce and analyze modern genetic data that are complex in nature and massive in size, and in collaboration with computer scienticst and mathematicians, we have transferred algorithms and techniques from the fields of computer science and applied mathematics, and we have worked to translate theory to applications in the field of genetics. Through such collaborations we are developing and implementing novel methods for genotype imputation from tagging SNPs as well as novel algorithms for the identification of ancestry informative markers, leveraging a powerful dimensionality reduction technique, the so-called Principal Components Analysis (PCA). Using such algorithms we have studied the variation of human populations with a particular focus on the detection of and correction for population stratification biases in genetic association studies. Currently, we focus on the analysis of population structure around the Mediterranean basin.

Gilles de la Tourette Syndrome

Supported by the Tourette Syndrome Association, we have coordinated the establishment of a scientific network of investigators from seven countries from Southern and Eastern Europe, with a goal to promote the study of TS genomics and educate both the public and professionals about the disorder (TSGeneSEE - Tourette Syndrome Genetics. The Southern and Eastern Europe Initiative). Countries that currently participate include Greece, Albania, Hungary, Italy, Poland, Ukraine and Russia. Our initiative has now turned pan-European, receiving support from the COST intergovernmental framework for European Cooperation in Science and Technology. The COST Action entitled "European network for the study of Gilles de la Tourette Syndrome" aims to unify national projects across Europe towards a common goal of understanding the etiology of Tourette Syndrome and improving the standards of care and quality of life for affected individuals.

Multifactorial Diabetes

In collaboration with the Medical Schools of Democritus University of Thrace, and Aristotle University of Thessaloniki, we are currently studying the genetic basis of Type 2 Diabetes and its complications (THALIS programme GR-DIAGENES). The establishment of a large biobank of samples for the study of T2DM and diabetic nephropathy is currently underway.

Alzheimer's Disease and Healthy Brain Ageing

In collaboration with Prof. Gabor Kovacs from the Medical University of Vienna and as part of the DEVELAGE project, we study the genomic background that drives the shift from healthy brain ageing to neurodegeneration. To do this, we investigate whole genome sequencing data on a large sample of brains from elderly individuals, collected as part of the Vienna Transdanube Aging Study.