Reseach of the Chair of the Human Genetics

Current research is executed mostly in the direction of reproductive biomedicine:

Placental genetics and genomics (transcriptomics, epigenetics, genome structural variants, microRNAs) in normal and adverse pregnancy outcomes
Genetic factors implicated in pregnancy-related diseases
Genetic factors implicated in male and female reproductive health, infertility and disorders of gonadal development (exome sequencing, genetic association studies)
Investigations of ‘pleiotropic genes’ with a broad spectrum of phenotypic effects
Biomarker studies with the focus on translational research

Our research is mostly targeted to the analysis of various human biological samples, including both targeted genetic studies and large-scale bioinformatic analysis of genomic data generated on the patient’s samples. If relevant, in vitro experimental research is applied for functional validation of the generated hypotheses. The chair has assembled over ~15 years a large biobank of clinical samples, collected in collaboration with our clinical partners at the Tartu University Hospital.

Our studies are executed in the synergy with a long-term collaboration with Estonian and international research network.

Daily partnership has been developed with clinical collaborators at the Andrology Centre (led by Prof. Margus Punab) and Women’s Clinic, Tartu University Hospital (partnership with Prof. Kristiina Rull and others). Women's Clinic, East Tallinn Central Hospital and Women's Clinic, West Tallinn Central Hospital.

The current main international collaboration

partner in male reproductive genetics is a worldwide consortium GEMINI (‘Gentics in Male Infertility’, PI: Dr. Don F. Conrad).
Prof. Tom Lenaerts, Université Libre de Bruxelles, Belgium.

Grants

Estonian Research Council: Mono- and digenic causes of male infertility in the exome sequencing era: novel genes, digenic inheritance, pleiotropic effects and clinical implications (GMVBS21064PR, 01.01.2021−31.12.2025)

The most important publications in last five years

Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M. (2024) Toward clinical exomes in diagnostics and management of male infertility. Am J Hum Genet 111(5):877-895. doi: 10.1016/j.ajhg.2024.03.013.
Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M. (2024) Undiagnosed RASopathies in infertile men. Front Endocrinol (Lausanne) 15:1312357. doi: 10.3389/fendo.2024.1312357
Triin Kikas, Anna Maria Punab, Laura Kasak, Olev Poolamets, Vladimir Vihljajev, Kristjan Pomm, Mario Reiman, Stanislav Tjagur, Paul Korrovits, Margus Punab, Maris Laan (2023) Microdeletions and microduplications linked to severe congenital disorders in infertile men. Scientific Reports 13(1):574. doi: 10.1038/s41598-023-27750-w.
Inno R, Kikas T, Lillepea K, Laan M (2021). Coordinated Expressional Landscape of the Human Placental miRNome and Transcriptome. Frontiers in Cell and Developmental Biology, 9 (697947), 1−20. DOI: 10.3389/fcell.2021.697947.
Hallast P, Kibena L, Punab M, Arciero, E, Rootsi S, Grigorova M, Flores R, Jobling, MA, Poolamets O, Pomm K, Korrovits P, Rull K, Xue Y, Tyler-Smith C, Laan M (2021). A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans. eLife, 10, e65420. DOI: 10.7554/eLife.65420.