Human Genetics & Precision Medicine

Our research group investigates the genetic and molecular basis of human health and disease through integrated genomics and multi-omics approaches. By combining whole-genome sequencing, transcriptomics, small RNA profiling and bioinformatics, we identify genetic variants, regulatory mechanisms and molecular biomarkers associated with complex human traits and diseases. A major focus of our research is reproductive genetics, particularly the genetic basis of male infertility, alongside nutrigenomics and pharmacogenomics, exploring how genetic variation influences individual responses to diet, nutrients and therapeutic interventions. 

Research in Action

Explore selected projects and publications that highlight our research activities and contributions in this field.

1. Men Fertility: Genomics, Proteomics and Diagnosis – From the Bench to the Bedside. Acronym: Fertilaid. Funding Programme: Research–Create–Innovate (ERDF / GSRT). Project Code: T1EDK-02787. Role: Project Coordinator. Duration: 2018–2022

2. Zachari, S., Liadaki, K., Planaki, A., Zafiriou, E., Kouvarou, O., Gerogianni, K., Giannoulis, T., Mamuris, Z., Bogdanos, D. P., Moschonas, N. K., & Sarafidou, T. (2025). A Genome-Wide Association Study Identifying Novel Genetic Markers of Response to Treatment with Interleukin-23 Inhibitors in Psoriasis. Genes, 16(10), 1195. https://doi.org/10.3390/genes16101195

3. Stamatellos, G., Kyrgiafini, M.-A., Kaltsas, A., & Mamuris, Z. (2025). Mitochondrial Dysregulation in Male Infertility: A Preliminary Study for Infertility-Specific lncRNA Variants. DNA, 5(3), 38. https://doi.org/10.3390/dna5030038

4. Kaltsas, A., Kyrgiafini, M. A., Markou, E., Koumenis, A., Mamuris, Z., Dimitriadis, F., Zachariou, A., Chrisofos, M., & Sofikitis, N. (2025). Artificial Gametogenesis and In Vitro Spermatogenesis: Emerging Strategies for the Treatment of Male Infertility. International journal of molecular sciences, 26(15), 7383. https://doi.org/10.3390/ijms26157383

5. Kyrgiafini, M. A., Kaltsas, A., Chatziparasidou, A., & Mamuris, Z. (2025). The Small RNA Landscape in Azoospermia: Implications for Male Infertility and Sperm Retrieval-A Preliminary Study. International journal of molecular sciences, 26(8), 3537. https://doi.org/10.3390/ijms26083537

6. Sarri, C. A., Papadopoulos, G. E., & Mamuris, Z. (2023). West Nile virus-associated HLA-DRB1 alleles in the Greek population: A structural perspective. Microbiology and immunology, 67(3), 154–159. https://doi.org/10.1111/1348-0421.13048