The Department of Molecular and Clinical Genetics has a broad range of scientific interests. The Department conducts studies on the genetics of cystic fibrosis, primary ciliary dyskinesia and diseases related to genetically determined defects of motile cilia. Department also investigates the molecular and genetic aspects of hematologic diseases (especially acute T-cell lymphoblastic leukemia), as well as monitoring of the treatment response (so called residual disease). Last, but not least, we conduct research on issues related to the genetic diversity of human populations. In all cases, we are interested not only in broadening of the basic knowledge, but also its practical application.
Department of Molecular and Clinical Genetics
Featured publications
Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay.
Kolakada D, Fu R, Biziaev N, Shuvalov A, Lore M, Campbell AE, Cortázar MA, Sajek MP, Hesselberth JR, Mukherjee N, Alkalaeva E, Coban-Akdemir ZH, Jagannathan S.
Cell Genomics, 2025, 2025 May, 13:100882, 24 strony, doi: 10.1016/j.xgen.2025.100882IF-11,1 MNiSW-20
Lithium Treatment Increases FKBP5 Protein but Not mRNA Expression in the Pituitary Gland of Depressive-like Rats.
Kubiak M, Majewska W, Kachel M, Dola A, Koga W, Nowakowska J, Langwiński W, Szczepankiewicz A.
Brain Sci, (MDPI) 2025 Apr 10;15 (4): 389. doi: 10.3390/brainsci15040389IF-2,7 MNiSW-100
Mapping the molecular signature of ABA-regulated gene expression in germinating barley embryos.
Sybilska E, Haddadi BS, Mur LAJ, Beckmann M, Hryhorowicz S, Suszyńska-Zajczyk J, Knaur M, Pławski A, Daszkowska-Golec A.
BMC Plant Biol, 2025 May 10; 25 (1): 619, 24 str.,. doi: 10.1186/s12870-025-06654-z.IF-4,7 MNiSW-140
A novel pathogenic variant of CFAP221 is a cause of a mild form of primary ciliary dyskinesia.
Rabiasz A, Bukowy-Bieryłło Z, Kaźmierczak P, Przystałowska-Macioła H, Mikoś M, Wojsyk-Banaszak I, Ziętkiewicz E
IF-4.2 MNiSW-140
Conservation of OFD1 Protein Motifs: Implications for Discovery of Novel Interactors and the OFD1 Function.
Jagodzik P, Ziętkiewicz E, Bukowy-Bieryłło Z
Int.J Mol Sci (MDPI). 2025, 26 (3), 1167, 22 strony, do: 10.3390/ijms26031167IF-4.9 MNiSW-140
Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis.
Chorężak-Michalak A, Szpecht D, Woźniak T, Chmielarz-Czarnocińska A, Gazińska P, Gotz-Więckowska A, Strauss E
Sci Rep, 2025, 15: 329, doi: 10.1038/s41598-024-83305-7IF-3.8 MNiSW-140
Focal deletions of a promoter tether activate the IRX3 oncogene in T-cell acute lymphoblastic leukemia.
Rahman S, Bloye G, Farah N, Demeulemeester J, Costa JR, O’Connor D, Pocock R, Rapoz-D’Silva T, Turna A, Wang L, Lee S, Fielding AK, Roels J, Jaksik R, Dawidowska M, Van Vlierberghe P, Hadjur S, Hughes JR, Davies JOJ, Gutierrez A, Kelliher MA, Van Loo P, Dawson MA, Mansour MR
Blood. 2024 Nov 28;144(22):2319-2326. doi: 10.1182/blood.2024024300. PMID: 39316719.IF-21 MNiSW-200
Comparative efficacy of animal depression models and antidepressant treatment: A systematic review and meta-analysis.
Ratajczak P, Martyński J, Zięba JK, Switło K, Kopciuch D, Paczkowska A, Zaprutko T, Kus K
Pharmaceutics, 2024, 16 (9): 1-25. doi: 10.3390/pharmaceutics16091144IF-4.9 MNiSW-100
Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SF, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H
Eur Respir J, 2024 Aug 8, 64 (2): 2301769, 15 str., doi: 10.1183/13993003.01769-2023, Epub 2024 Jun 13IF-16.6 MNiSW-200
The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.
Daca-Roszak P, Fiedorowicz J, Jankowski M, Ciecielka M, Teresiński G, Lipska-Ziętkiewicz B, Ziętkiewicz E, Grzybowski T, Skonieczna K
J Appl Genetics,2024 65 (3): 559-563, doi.10.1007/s13353-023-00821-4, Epub 2023 Dec 19IF-2.0 MNiSW-140
All publications
Featured research projects
1. STRATEGMED research project
Personalization of childhood acute lymphoblastic leukemia treatment in Poland
(PersonALL)
realized within the STRATEGMED-III program „Prevention and treatment of civilization diseases”
Project consortium members:
Silesian Medical University, Katowice
Institute of Innovative Techniques EMAG in Katowice
Medical University of Lodz
Institute of Human Genetics PAS in Poznan
Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun
Medical University of Lublin
Medical University of Wroclaw
Medical University of Poznan
Warsaw Medical University
Medical University of Bialystok
Gdansk Medical University
Pomeranian Medical University in Szczecin
NET-O-LOGY company
2. NCN research project 2016/20/T/NZ4/00525
Drug-stimulated premature termination codon readthrough in selected genes involved in primary ciliary dyskinesia (PCD)
(2016-2018)
3. NCN research project 2014/13/B/NZ2/03858
Whole exome sequencing in Polish population of patients – search for the genetic basis of primary ciliary dyskinesia, PCD
(2015-2018)
4. NCN research project 2014/15/B/NZ2/03394
Next-generation sequencing of miRNA transcriptome and functional in vitro study: towards unravelling pathomechanisms and heterogeneity of pediatric T-cell acute lymphoblastic leukemia (T-ALL)
(2015-2018)
5. NCN research project 2013/11/N/NZ5/03730
Genetics of pediatric T-cell acute lymphoblastic leukemia
(2014-2017)
6. NCN research project 2013/09/D/NZ4/01692
The influence of external factors on the dynamics of the respiratory epithelium differentiation in the context of the use of the different in vitro ciliogenesis regimens in studies on primary ciliary dyskinesia
(2014-2017)
7. The research project of the European Union COST BM1407
International project financed from EU funds: “Translational research in primary ciliary dyskinesia – bench, bedside, and population perspectives (BEAT-PCD)”
http://www.cost.eu/COST_Actions/bmbs/BM1407
(2015-2019)
8. The research project of the European Union COST IS1303
International project financed from EU funds: “Citizen’s Health through public- private Initiatives: Public health, Market and Ethical perspectives’ CHIP-ME
http://www.cost.eu/COST_Actions/isch/IS1303
(2013-2017)
9. The research project of the European Union FP7 305404
International project financed from EU funds (FP7): „Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia” BESTCILIA
(2013-2016)
10. Projekt badawczy Ministerstwa Nauki nr OR00 0027 12
Multi-center R & D project “Identification of genetic markers useful for identifying human populations (AriaDNA)”
(2011-2014)
Collaborations
Awards
Awarded:
dr n. med. i n. o zdr. Monika Drobna-Śledzińska
2 Nagrodę w Specjalności Genetyka człowieka.
Given by: ZG PTG
W ramach II edycji konkursu organizowanego przez Polskie Towarzystwo Genetyczne na najlepszą pracę oryginalną oraz rozprawę doktorską w zakresie genetyki z 2023 roku
Awarded:
dr hab. n. med. i n. o zdr. Małgorzata Dawidowska
Nagroda PTGC
Nagroda PTGC
Given by: PTGC
Podczas XI Zjazdu PTGC w Bydgoszczy, Małgorzata Dawidowska – kierownik Samodzielnej Grupy Badawczej Hematoonkologii Podstawowej i Translacyjnej w Zakładzie Genetyki Molekularnej i Klinicznej otrzymała Nagrodę Polskiego Towarzystwa Genetyki Człowieka za najlepszą pracę habilitacyjną z zakresu genetyki człowieka w latach 2018-2020. Tytuł nagrodzonej pracy habilitacyjnej: „ Ostra białaczka limfoblastyczna u dzieci w ujęciu badań podstawowych i translacyjnych”.
Awarded:
dr hab. n. med. i n. o zdr. Małgorzata Dawidowska
Nagroda Naukowa Miasta Poznania - 2023.
Given by: Nagroda Naukowa Miasta Poznania
Nagrodę przyznano za kompleksowe badania podłoża molekularnego i mechanizmów patogenezy ostrej białaczki limfoblastycznej u dzieci, łączące aspekty poznawcze i aplikacyjne. Do nagrody przedstawiono cykl 5 prac opublikowanych w recenzowanych czasopismach naukowych w latach 2021-2022.
Awarded:
dr n. med. i n. o zdr. Monika Drobna-Śledzińska
START is a scholarship programme for the best young researchers representing all fields of science. Grant can be used for any purpose, is intended to provide financial support to researchers at early stage of their research career and to enable them implementation of research plans.
START is a scholarship programme for the best young researchers representing all fields of science. Grant can be used for any purpose, is intended to provide financial support to researchers at early stage of their research career and to enable them implementation of research plans.
Given by: Foundationf for Polish Science START
For the 31st time, the Foundation for Polish Science awarded START scholarships to the most talented young scientists from all over Poland. This year, 100 young researchers will receive it, including Monika Drobna-Śledzińska, PhD student from the Department of Molecular and Clinical Genetics.
START is a scholarship programme for the best young researchers representing all fields of science. Grant can be used for any purpose, is intended to provide financial support to researchers at early stage of their research career and to enable them implementation of research plans.
Awarded:
mgr Alicja Rabiasz
Fellowship (EMBO Scientific Exchange Grant)
Given by: The European Molecular Biology Organization (EMBO).
to implement the project “ The use of mRNA therapy to restore ciliary function in zebrafish with knockout of CCDC39, the known primary ciliary dyskinesia (PCD) gene”.
Awarded:
mgr Alicja Rabiasz
Helisa 2022
Given by: Polish Society of Human Genetics, VI Polish Genetics Congress, Cracow on June 27-30th, 2022.
for the best posters presented on the Human Genetics session: Alicja Rabiasz, Monika Drobna-Śledzińska, Natalia Maćkowska- Maślak, Ewa Ziętkiewicz - POLR2K as a passenger gene mutated together with SPAG1, the known primary ciliary dyskinesia (PCD) gene.
Awarded:
mgr Joanna Jurczak
Helisa 2022
Given by: Polish Society of Human Genetics, VI Polish Genetics Congress, Cracow on June 27-30th, 2022.
for the best posters presented on the Human Genetics session: Joanna Jurczak, Zuzanna Bukowy-Bieryłło, Hanna Przystałowska-Macioła, Patrycja Daca-Roszak, Roman Jaksik, Michał Witt, Ewa Ziętkiewicz - Functional studies on in vitro differentiation of airway epithelium in ALI culture as a tool for modeling ciliopathies.
Awarded:
dr n. med. i n. o zdr. Monika Drobna-Śledzińska
Scholarship
Given by: Director IBCH PAS
Scholarship 2020/21
Awarded:
mgr Alicja Rabiasz
Polish Intelligent Development Award 2020 in the category: Scientist of the future
Given by: Inteligent Development Center
Poszukiwanie nowych genów zaangażowanych w patogenezę pierwotnej dyskinezy rzęsek: analiza funkcjonalna genów kandydatów metodą interferencji RNA.
Awarded:
dr hab. n. med. i n. o zdr. Małgorzata Dawidowska
Prime Minister's award
Given by: Prime Minister
Prime Minister's award in the category of highly valued scientific achievements that were the basis for awarding the habilitation