Laboratory of Population Genetics and Evolution

The Laboratory of Population Genetics and Evolution was founded in 2002 (ΦΕΚ 278 τ. Α’/19-11-2002, Presidential Decree 326). The Laboratory is co-housed and its members closely collaborate with the Laboratory of Genomic Variation and Genetic Epidemiology (founded in 2015). 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 II: Biochemistry and Genetics", "Molecular Basis of Genetic Diseases", "Mechanisms of Carcinogenesis", "Laboratory Genetics", "Molecular Mechanisms of Epigenetics", and others, while it actively participates in research programs in the field of Population and Evolutionary Genetics. Faculty members of the Laboratory coordinate related courses in different postgraduate programs of the Department and teach in a significant number of these postgraduate courses.

Laboratory Details

Laboratory Title: Laboratory of Population Genetics and Evolution

Faculty: Faculty of Health Sciences

School: Molecular Biology and Genetics

Email: mgeorgit@mbg.duth.gr

Telephone: 25510-30497 25510-30413

Official Gazette of Establishment:

Introduction - Presentation

The Laboratory of Population Genetics and Evolution was founded in 2002 (ΦΕΚ 278 τ. Α’/19-11-2002, Presidential Decree 326). The Laboratory is co-housed and its members closely collaborate with the Laboratory of Genomic Variation and Genetic Epidemiology (founded in 2015). 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 II: Biochemistry and Genetics", "Molecular Basis of Genetic Diseases", "Mechanisms of Carcinogenesis", "Laboratory Genetics", "Molecular Mechanisms of Epigenetics", and others, while it actively participates in research programs in the field of Population and Evolutionary Genetics. Faculty members of the Laboratory coordinate related courses in different postgraduate programs of the Department and teach in a significant number of these postgraduate courses.

Field of Research

The laboratory's main research interests include: - Study of genetic diversity of organisms and populations, e.g. genome-wide association studies (GWAS), evolutionary genetics, - Study of the genetic and molecular basis of human diseases (rare inherited diseases and multifactorial diseases), - Bioinformatics processing and data analysis at genome and transcriptome levels, - Genomics of biodiversity (tools for research on genetic diversity), - Population and evolutionary genetics of plant species (spatial and temporal patterns of genetic diversity of wild plant populations)

Laboratory Members

Name Position/Capacity Email Telephone
Marianthi Georgitsi Assistant Professor, Laboratory Director mgeorgit@mbg.duth.gr 25510-30497 25510-30413

Featured Research Programs

Programme Title Duration Funding
Odyssey: Connecting molecular and geographical biodiversity data 2025-2028 ESFRI Research Infrastructures and e-Infrastructure, ELIXIR Commissioned Services Project: 2024-SCIENCE-BFSP, HORIZON EUROPE
ΒΕΛΤΙΩΣΗ ΤΗΣ ΚΑΤΑΣΤΑΣΗΣ ΔΙΑΤΗΡΗΣΗΣ ΤΟΥ PINUS HELDREICHII ΣΕ ΕΘΝΙΚΟ ΕΠΙΠΕΔΟ ΜΕΣΩ ΠΑΡΑΔΟΣΙΑΚΩΝ (ΠΟΛΛΑΠΛΑΣΙΑΣΜΟ) ΚΑΙ ΚΑΙΝΟΤΟΜΩΝ ΜΕΘΟΔΩΝ (GENOTYPING) 2023-2025 Ministry of Environment & Energy – Green Fund
ECOeDNA – ΕΦΑΡΜΟΓΗ ΤΗΣ ΤΕΧΝΟΛΟΓΙΑΣ eDNA ΓΙΑ ΤΗΝ ΠΑΡΑΚΟΛΟΥΘΗΣΗ ΤΩΝ ΙΧΘΥΟΑΠΟΘΕΜΑΤΩΝ ΚΑΙ ΤΩΝ ΓΕΝΕΤΙΚΩΝ ΠΟΡΩΝ ΤΟΥ ΥΔΑΤΙΝΟΥ ΠΕΡΙΒΑΛΛΟΝΤΟΣ ΤΟΥ ΘΡΑΚΙΚΟΥ ΠΕΛΑΓΟΥΣ ΩΣ ΕΡΓΑΛΕΙΟ ΑΕΙΦΟΡΙΚΗΣ ΔΙΑΧΕΙΡΙΣΗΣ 2023-2025 Ministry of Environment & Energy – Green Fund
ELIXIR-GR: The Greek Research Infrastructure for Data Management and Analysis in Life Sciences 2018-… National Roadmap for Research Infrastructures (ESFRI European Research Infrastructures, HORIZON 2020)

Featured Publications

Chronological Order APP doi
Topaloudi A, ….., Georgitsi M*, Paschou P* (2022). A Myasthenia Gravis genome-wide association study implicates AGRN as a risk locus. J Med Genet 59(8):801-809. 10.1136/jmedgenet-2021-107953
Topaloudi A, ….., Georgitsi M, Drineas P, Paschou P (2023). PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders. Front Immunol 14: 1147573 10.3389/fimmu.2023.1147573
Tsetsos F, …..; PGC TS Working Group; TSAICG; TSGeneSEE Initiative; EMTICS Collaborative Group; TS-EUROTRAIN Network; TIC Genetics Collaborative Group; ….., Georgitsi M, Hoekstra PJ, Paschou P. (2024). Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome. Biol Psychiatry 96(2):114-124 10.1016/j.biopsych.2023.01.023

Infrastructure and Equipment

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