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
Na co chorował i co było przyczyną śmierci Fryderyka Chopina?
Witt M
Nauka 2/2021, 181-190, DOI: 10.24425/nauka.2021.136322MNiSW-20
Long term differentiating primary human airway epithelial cell cultures: how far are we?
Bukowy-Bieryłło Z
Cell Commun Signaling, 2021, 19: e63, https://doi.org/10.1186/s12964-021-00740-zIF-4,344 MNiSW-140
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.
Żurowska AM, Bielska O, Daca-Roszak P, Jankowski M, Szczepańska M, Roszkowska-Bjanid D, Kuźma-Mroczkowska E, Pańczyk-Tomaszewska M, Moczulska A, Drożdż D, Hadjipanagi D, Deltas C, Ostalska-Nowicka D, Rabiega A, Taraszkiewicz J, Taranta-Janusz K, Wieczorkiewicz-Plaza A, Jobs K, Mews J, Musiał K, Jakubowska A, Nosek H, Jander AE, Koutsofti C, Stanisławska-Sachadyn A, Kuleszo D, Ziętkiewicz E, Lipska-Ziętkiewicz BS
IF-8,945 MNiSW-140
Properties of non-aminoglycoside compounds used to stimulate translational readthrough of PTC mutations in Primary Ciliary Dyskinesia.
Dąbrowski M, Bukowy-Bieryłło Z, Jackson CL, Ziętkiewicz E
Int J Mol Sci, 2021, 22, 4923, 14 str.IF-4,556 MNiSW-140
DNA Methylation in T-Cell Acute Lymphoblastic Leukemia: In Search for Clinical and Biological Meaning.
Maćkowska N, Drobna-Śledzńska M, Witt M and Dawidowska M
Int J Mol Sci, Special Issue "Epigenetic Mechanisms and Human Pathology (MDPI), 2021, e1388, https://doi.org/10.3390/ijms22031388IF-4,556 MNiSW-140
Discrimination between human populations using a small number of differentially methylated CpG sites: A preliminary study using lymphoblastoid cell lines and peripheral blood samples of Caucasian and Chinese origin.
Daca-Roszak P, Jaksik R J; Paczkowska J; Witt M; Zietkiewicz E
IF-3,594 MNiSW-140
Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia. Editorial.
Crowley S, Azevedo I, Boon M, Bush A, Eber E, Haarman E, Karadag B, Kötz K, Leigh M, Moreno-Galdó A, Mussaffi H, Nielsen KG., Omran H, Papon J-F, Pohunek P, Priftis K, Rindlisbacher B, Santamaria F, Valiulis A, Witt M, Yiallouros P, Zivkovic Z, Kuehni CE., Lucas JS for BEAT-PC.
Eur Respirat J Open Res, 2020, 6 (3): 003777-2020, DOI: 10.1183/23120541.003772020MNiSW-40
How far musicality and perfect pitch are derived from genetic factors?
Szyfter K, Witt M
IF-2,027 MNiSW-100
Czy jesteśmy w Polsce przygotowani na upowszechnienie nowoczesnych testów genetycznych?
Witt M
Nauka, 2/2020, str.: 39–50, doi:10.24425/nauka.2020.132631MNiSW-20
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia (BEAT PCD TEM Criteria).
Shoemark A, Boon M, Brochhausen C, Bukowy-Bieryllo Z, Margherita De Santi M, Goggin P, Griffin P, Hegele RG, Hirst RA, Leigh MW, Lupton A, MacKenney K, Omran H, Pache JC, Pinto A, Reinholt FP, Schroeder J, Yiallouros P, Escudier E
Eur Respir J, 2020 Apr 16; 55(4). doi: 10.1183/13993003.00725-2019, Epub 2020 Feb 14IF-12,339 MNiSW-200
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:
mgr inż. 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. 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
Awarded:
mgr Alicja Rabiasz
Nomination for the Polish Intelligent Development Award 2020
Given by: Polish Intelligent Development
Nomination for the Polish Intelligent Development Award 2020 in the category: Sciencist of the future for the project: : “In search for new genes involved in primary ciliary dyskinesia pathogenesis: functional screening of candidate genes using RNA interference"
Awarded:
mgr inż. Monika Drobna-Śledzińska
Scholarship from the City of Poznań for young researchers
Given by: Scholarship of City of Poznań
Monika Drobna, MSc. – PhD student from the Department of Molecular and Clinical Genetics has received a scholarship from the City of Poznań for young researchers for outstanding scientific activity and scientific achievements in the field of molecular research including microRNA, which are the basis of childhood T-cell acute lymphoblastic leukemia.
Awarded:
mgr inż. Monika Drobna-Śledzińska
Honorable mention
Given by: Poznań branch of the Polish Academy of Sciences
Monika Drobna, MSc, was granted a honorable mention in the contest for the best original paper published in 2018, with a PhD student as the leading author, organized by the Poznań branch of the Polish Academy of Sciences. The work entitled „Identification of endogenous control miRNAs for RT-qPCR in T-cell acute lymphoblastic leukemia” [Drobna M, Szarzyńska-Zawadzka B, Daca-Roszak P, Kosmalska M, Jaksis R, Witt M, Dawidowska M; Int J Mol Sci, 2018, 19 (10): e2858].
Awarded:
dr n. med. Bronisława Szarzyńska-Zawadzka
The Kosciuszko Foundation Grant
Given by: Kosciuszko Foundation
Bronisława Szarzyńska-Zawadzka has been awarded a Kosciuszko Foundation Grant for the academic year 2019/2020, to visit University of New Mexico, NM, US. During the 3-month visit at University of New Mexico in Albuquerque Bronisława Szarzyńska-Zawadzka will study tumor suppressor function of RNA-binding protein QKI-5 in T-cell lineage acute lymphoblastic leukemia.
The Kosciuszko Foundation promotes closer ties between Poland and the United States through educational, scientific and cultural exchanges. The Kosciuszko Foundation annually awards a number of Fellowships/Grants to Poles for advanced study, research, and/or teaching at universities and other institutions of higher learning in the United States.
Awarded:
dr n. med. Bronisława Szarzyńska-Zawadzka
Award for the best review publication in 2018
Given by: Director of the Institute of Human Genetics PAS
the best review publication in 2018 entitled: "T-cell acute lymphoblastic leukemia from miRNA perspective” published in the prestigious journal Blood Reviews
Awarded:
mgr inż. Monika Drobna-Śledzińska
Award for the best review publication in 2018
Given by: Director of the Institute of Human Genetics PAS
the best review publication in 2018 entitled: "T-cell acute lymphoblastic leukemia from miRNA perspective" published in the prestigious journal Blood Reviews
Awarded:
dr hab. n. med. Małgorzata Dawidowska
Award for the best review publication in 2018
Given by: Director of the Institute of Human Genetics PAS
the best review publication in 2018 entitled: "T-cell acute lymphoblastic leukemia from miRNA perspective" published in the prestigious journal Blood Reviews