Department of Neurogenetics and Functional Genomics


Head
prof. Cezary Żekanowski PhD, DSc; This email address is being protected from spambots. You need JavaScript enabled to view it.
Research staff
Mariusz Berdyński PhD, DSc: This email address is being protected from spambots. You need JavaScript enabled to view it.
Beata Borzemska PhD, DSc: This email address is being protected from spambots. You need JavaScript enabled to view it.
Jakub P. Fichna PhD, DSc: This email address is being protected from spambots. You need JavaScript enabled to view it.
Katarzyna Gawęda-Walerych PhD, DSc: This email address is being protected from spambots. You need JavaScript enabled to view it.
Anna Chołoniewska PhD: This email address is being protected from spambots. You need JavaScript enabled to view it.
Michalina Wężyk PhD: This email address is being protected from spambots. You need JavaScript enabled to view it.
Technical Staff
Małgorzata Kobryś, This email address is being protected from spambots. You need JavaScript enabled to view it. 
PhD students
Eliza Lutostańska MSc: This email address is being protected from spambots. You need JavaScript enabled to view it.
Natalia Mierzwa MSc: This email address is being protected from spambots. You need JavaScript enabled to view it.
Technical staff
Hummaira Sadaf PhD: This email address is being protected from spambots. You need JavaScript enabled to view it.
 
Research profile
  • Identification and characterization of mutations and genomic variants associated with the clinical phenotypes of neurodegenerative and neurodevelopmental CNS disorders, particularly atypical forms combining features of distinct disease entities;
  • Analysis of cellular and molecular processes underlying frontotemporal dementia (FTD) spectrum disorders caused by mutations in the PGRN, MAPT, and C9orf72 genes; mutation analysis using cellular and organoid models;
  • Analysis of molecular and cellular mechanisms underlying neurodegenerative diseases (especially changes occurring in the early stages of Alzheimer’s disease) using next-generation sequencing, epigenetic and bioinformatic analysis, cellular modeling, and functional neuronal analysis;
  • Generation of human neural tissue organoid models for testing research hypotheses and novel therapeutic approaches under controlled conditions;
  • Identification and characterization of nuclear and mitochondrial genomic variants associated with elite athletic performance;
  • Analysis of gene expression encoding enzymes involved in the biosynthesis of polyphenols and diterpenes in Salvia sp. cultures, and investigation of the therapeutic potential of these compounds using FTD cellular and organoid models.

Grants
  • "Tracking epigenetic markers in idiopathic Alzheimer’s disease using directly induced patient neurons (iNeuron model)" – Project Leader: Dr. Michalina Wężyk; SONATA BIS-15, NCN 2025/58/E/NZ2/00500.
  • "Innovative platform for modeling therapies for neurological and oncological diseases using patient-derived organoids" – Project Leader: Dr. hab. Dawid Walerych; Partner: Dr. Michalina Wężyk; KPOD.07.07-IW.07-0105/24.
  • “Pre-symptomatic synaptic disorders in Alzheimer's disease”, a part of the JPco-fuND2 2021 (EU JPND; 2021/03/Y/NZ5/00112); Lider: dr Michalina Wężyk 2022-2025.
  • "Identification and comprehensive characterization of genomic variants associated with Gilles de la Tourette syndrome.” Lider: prof. Cezary Żekanowski, NCN UMO- 2016/23/B/NZ2/03030, 2017 – 2020 (2021).
  • „Searching for novel genes determining the predisposition to physical performance” Lider: prof. Paweł Cięszczyk; Partner: prof. Cezary Żekanowski; OPUS14 (NCN), 2018 - 2021; 2017/27/27/B/NZ7/00204.
  • "Characterization of mitochondrial phenotype in fibroblasts from Fronto-Temporal Dementia (FTD) patients with mutations in progranulin gene (PGRN)”. PI: Katarzyna Gawęda-Walerych PhD, NCN DEC-2017/01/X/NZ3/00266, 2017 - 2018.
  • „Search for mutations in neurodegenerative diseases in patients with a single variant of the TREM2 gene” PI: Beata Pepłońska PhD, DSc; NCN DEC-2018/02/X/NZ5/01509; 2018 - 2019
  • "Searching for novel molecular pathways dysregulated in pathophysiology of amyotrophic lateral sclerosis" PI: Mariusz Berdyński PhD, National Science Center (NCN) UMO-2015/17/D/NZ2/03712, 2016 - 2019
  • ”The search for post-zygotic mutations in patients with limb-girdle muscular dystrophy using next generation sequencing.” PI: Jakub P. Fichna PhD; NCN 2015/19/N/NZ2/02915, 2016 - 2019

Collaboration
domestic:
  • Warsaw Medical University
  • University of Warsaw Biological and Chemical Research Centre
  • Institute of Biochemistry and Biophisics, Polish Academy of Sciences, Warszawa
  • Medical University of Gdańsk
  • Medical University of Łódź
  • Pomeranian Medical University, Szczecin
  • Józef Piłsudski University of Physical Education in Warsaw
  • University of Physical Education and Sport, Gdańsk
  • Institute of Pharmacology, Polish Academy of Sciences, Kraków
  • Centre of New Technologies, Warsaw University
foreign:
  • Karolinska Institutet, Stockholm, Szwecja
  • Purdue University, Purdue, USA
  • The Ignaz Semmelweis Institute, Budapest, Hungary
  • Oxford University, Oxford, England
  • International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
  • Humanitas University and IRCCS Humanitas Research Hospital, Milan, Italy

Research equipment
  • Molecular biology equipment: electrophoresis and blotting (Bio-Rad), laminar flow chamber PCR HEPA UV3 PCR (Streamline), thermocyclers (Applied Biosystems, BioRad, Biometra), laboratory centrifuges with refrigeration (Eppendorf, MPW), genetic analyzer ABI 3130 (Applied Biosystems), StepOnePlus Real-time PCR System (Applied Biosystems), NanoDrop ND-1000 (NanoDrop), Milli-Q water purification system (Millipore), Odyssey FC system.
  • Cell biology equipment: cell culture incubators (Panasonic), laminar flow chambers for cell cultures (ESCO), laboratory centrifuge with refrigeration (Eppendorf), water bath (Labnet), pumps for cell culture (Bionovo), microscope Leica DM II Led Fluo (Leica Microsystems), duar LN2, integrated system for electrophysiological measurements.

Selected publication
  • Mierzwa N, Wężyk M. - Synaptic dysfunction as a major driver in Alzheimer's disease: Beyond the amyloid paradigm. Neurosci Biobehav Rev. 2026 Oct;189:106858. 
  • Elyasi L, Wężyk M. - Exosome-derived microRNAs from stem cells from human exfoliated deciduous teeth (SHED): Emerging therapeutics for neurodegenerative disorders. Biomed Pharmacother. 2026 Feb;195:119001. 
  • Berdyński M, Borczyk M, Humińska-Lisowska K, Korostyński M, Cięszczyk P, Żekanowski C. - Possible link between the apparently pathogenic FANCI variant and beneficial effects in sports performance. Front Genet. 2026 Feb 9;17:1745694. 
  • Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk M, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M. - A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases. Appl Clin Genet. 2025 Dec 24;18:283-290. 
  • Gaweda-Walerych K, Figarski A, Gawlik-Zawiślak S, Woźniak M, Chołoniewska A, Mierzwa N, Lutostańska E, Szymanowski J, Wężyk M. - Generation of Induced Pluripotent Stem Cells and Neuroepithelial Stem Cells from a Family with the Pathogenic Variant p.Q337X in Progranulin. Int J Mol Sci. 2025 Nov 21;26(23):11242. 
  •  Berdyński M, Safranow K, Andersen PM, Żekanowski C. - Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length. Hum Mutat. 2025 Jun 16;2025:9792233. 
  •  Borczyk M, Fichna JP, Piechota M, Gołda S, Zięba M, Hoinkis D, Cięszczyk P, Korostynski M, Janik P, Żekanowski C. - Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.J Appl Genet. 2025 Dec;66(4):975-991. 
  • Grąbkowska R, Krzemińska M, Gaweda-Walerych K, Kiss AK, Pluta K, Grzegorczyk-Karolak I. - Enhancement of Rosmarinic Acid Production in Hairy Root Cultures of Perovskia atriplicifolia Benth. Int J Mol Sci. 2025 Mar 29;26(7):3187. 
  • Gaweda-Walerych K, Aragona V, Lodato S, Sitek EJ, Narożańska, E, Buratti E. - Progranulin deficiency in the brain: the interplay between neuronal and non-neuronal cells. Transl Neurodegener. 2025 Apr 16;14(1):18. 
  • Grzegorczyk-Karolak I, Gawęda-Walerych K, Ejsmont W, Owczarek-Januszkiewicz A, Olszewska M, Grąbkowska R, Krzemińska M. - Polyphenol production and gene expression in sage shoot cultures exposed to light-emitting diodes. J Photochem Photobiol B. 2025 Mar;264:113106. doi: 10.1016/j.jphotobiol.2025.113106. Epub 2025 Jan 23.
  • A Bojarczuk, Garbacz A, Żekanowski C, Borzemska B, Cięszczyk P, Maculewicz E. - Systematic Review of IL-1, IL-4, IL-6, IL-10, IL-15, and IL-18 Gene Polymorphisms and Meta-Analysis of IL-6 Variant and Its Association with Overweight and Obesity Risk in Men. Int J Mol Sci. 2024 Dec 17;25(24):13501.
  • Borzemska B, Cięszczyk P, Żekanowski C.- The Genetic Basis of Non-Contact Soft Tissue Injuries-Are There Practical Applications of Genetic Knowledge? Cells. 2024 Nov 5;13(22):1828. 
  • Fichna JP, Chiliński M, Halder AK, Cięszczyk P, Plewczynski D, Żekanowski C, Janik P. - Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome. Int J Mol Sci. 2024 May 25;25(11):5758. 
  • Grzegorczyk-Karolak I, Krzemińska M, Grąbkowska R, Gomulski J, Żekanowski C, Gaweda-Walerych K. - Accumulation of Polyphenols and Associated Gene Expression in Hairy Roots of Salvia viridis Exposed to Methyl Jasmonate. Int J Mol Sci. 2024 Jan 7;25(2):764. 
  • Barczak A, Berdyński M, Gabryelewicz T, Barcikowska M, Borzemska B. - Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study. Folia Neuropathol. 2024;62(2):113-119. 
  • Wężyk M, Berdyński M, Figarski A, Skrzypczak M, Ginalski K, Zboch M, Winkel I, Żekanowski C. - Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case. Int J Mol Sci. 2023 Nov 30;24(23):16999. 
  • Jain PR, Burch M, Martinez M, Mir P, Fichna JP, Zekanowski C, Rizzo R, Tümer Z, Barta C, Yannaki E, Stamatoyannopoulos J, Drineas P, Paschou P. - Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation. BMC Genom Data. 2023 Nov 20;24(1):70. 
  • Piotrowska-Nowak A, Safranow K, Adamczyk JG, Sołtyszewski I, Cięszczyk P, Tońska K, Żekanowski C, Borzemska B. Mitochondrial Genome Variation in Polish Elite Athletes. International Journal of Molecular Sciences. 2023; 24(16): 12992. doi.org/10.3390/ijms241612992
  • Fichna JP, Borczyk M, Piechota M, Korostynski M, Zekanowski C, Janik P. - Genomic variants and inferred biological processes in multiplex families with Tourette syndrome. J Psychiatry Neurosci. 2023 May 19;48(3): E179-E189. doi: 10.1503/jpn.220206
  • Jain P, Miller-Fleming T ...  Zekanowski C ... Paschou P. - Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome. Transl Psychiatry. 2023 Feb 23;13(1):69.
  • Tsetsos F, Topaloudi A, ... Zekanowski C, ... Paschou P. - Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome. Biol Psychiatry. 2023 Feb 2:S0006-3223(23)00051-3.
  • Gaweda-Walerych K, Sitek EJ, Borczyk M, Narożańska E, Brockhuis B, Korostyński M, Schinwelski M, Siemiński M, Sławek J, Zekanowski C. - A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes.  Genes (Basel). 2022 Dec 14;13(12):2361.
  • Berdyński M, Ludwiczak J, Barczak A, Barcikowska-Kotowicz M, Kuźma-Kozakiewicz M, Dunin-Horkawicz S, Żekanowski C, Borzemska B. - TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders. J Alzheimers Dis. 2022;89(4):1211-1219.
  • Berdyński M, Miszta P, Safranow K, Andersen PM, Morita M, Filipek S, Żekanowski C, Kuźma-Kozakiewicz M. - SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity. Sci Rep. 2022 Jan 7;12(1):103.
  • Berdyński M, Krawczyk P, Safranow K, Borzemska B, Szaflik JP, Nowakowska-Żawrocka K, Żekanowski C, Giebułtowicz J. - Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population. J Clin Med. 2021 Dec 21;11(1):8.
  • Gaweda-Walerych K, Sitek EJ, Narożańska E, Buratti E. - Parkin beyond Parkinson's Disease-A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies. Cells. 2021 Dec 1;10(12):3389.
  • Gaweda-Walerych K, Sitek EJ, Borczyk M, Berdyński M, Narożańska E, Brockhuis B, Korostyński M, Sławek J, Zekanowski C. - Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype? Genes (Basel). 2021 Nov 17;12(11):1806.
  • Macias A, Fichna JP, Topolewska M, Rȩdowicz MJ, Kaminska AM, Kostera-Pruszczyk A. - Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients. Front Neurosci. 2021 Oct 14;15:692482
  • Fichna JP, Humińska-Lisowska K, Safranow K, Adamczyk JG, Cięszczyk P, Żekanowski C, Berdyński M. - Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population. Genes (Basel). 2021 Jun 15;12(6):919.
  • Gaweda-Walerych K, Walerych D, Berdyński M, Buratti E, Zekanowski C. - Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency. Front Mol Neurosci. 2021 May 13;14:676478.
  • Adamczyk JG, Safranow K, Gajewski AK, Boguszewski D, Sozański H, Sołtyszewski I, Pepłońska B, Cięszczyk P, Siewierski M, Żekanowski C. - The Second-to-Fourth Digit (2D:4D) Ratio of Male Combat Athletes is Associated with the Choice of Sport. J Hum Kinet. 2021 Mar 31;78:59-66. doi: 10.2478/hukin-2020-0083.
  • Potulska-Chromik A, Jędrzejowska M, Gos M, Rosiak E, Kierdaszuk B, Maruszak A, Opuchlik A, Zekanowski C, Fichna JP. - Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients. J Clin Med. 2021 Feb 26;10(5):914.
  • Kuźma-Kozakiewicz M, Andersen PM, Elahi E, Alavi A, Sapp PC, Morita M, Żekanowski C, Berdyński M. - Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Aug 10:1-6.
  • Szejko N, Fichna JP, Safranow K, Dziuba T, Żekanowski C, Janik P. - Association of a Variant of CNR1 Gene Encoding Cannabinoid Receptor 1 With Gilles de la Tourette Syndrome. Front Genet. 2020 Mar 4;11:125.
  • Jarmula A, Łusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Töpf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ. -  ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure. Sci Rep. 2019;9(1):11533.
  • Kieroń M, Żekanowski C, Falk A, Wężyk M - Oxidative DNA Damage Signalling in Neural Stem Cells in Alzheimer's Disease. Oxid Med Cell Longev. 2019 Nov 13;2019:2149812. doi: 10.1155/2019/2149812. eCollection 2019.
  • Hernandez I, Luna G, Rauch JN, Reis SA, Giroux M, Karch CM, Boctor D, Sibih YE, Storm NJ, Diaz A, Kaushik S, Zekanowski C, Kang AA, Hinman CR, Cerovac V, Guzman E, Zhou H, Haggarty SJ, Goate AM, Fisher SK, Cuervo AM, Kosik KS - A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy. Sci Transl Med. 2019 Mar 27;11(485):eaat3005.
  • Peplonska B, Safranow K, Adamczyk J, Boguszewski D, Szymański K, Soltyszewski I, Barczak A, Siewierski M, Ploski R, Sozanski H, Zekanowski C - Association of serotoninergic pathway gene variants with elite athletic status in the Polish population. J Sports Sci. 2019 Jul;37(14):1655-1662.
  • Fichna JP, Maruszak A, Żekanowski C. - Myofibrillar myopathy in the genomic context. J Appl Genet. 2018, 59:431-439.
  • Gaweda-Walerych K, Sitek EJ, Narożańska E, Wezyk M, Brockhuis B, Zekanowski C, Sławek J. - Functional characterization of a novel progranulin mutation in a patient with progressive nonfluent aphasia. Neurobiol Aging. 2018 72:186.e9-186.e12.
  • Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C. - Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. Hum Genomics. 2018, 12: 34.
  • Wezyk M, Spólnicka M, Pośpiech E, Pepłońska B, Zbieć-Piekarska R, Ilkowski J, Styczyńska M, Barczak A, Zboch M, Filipek-Gliszczynska A, Skrzypczak M, Ginalski K, Kabza M, Makałowska I, Barcikowska-Kotowicz M, Branicki W, Żekanowski C. - Hypermethylation of TRIM59 and KLF14 Influences Cell Death Signaling in Familial Alzheimer's Disease. Oxid Med Cell Longev. 2018: 6918797.
  • Wezyk M, Zekanowski C. - Role of BRCA1 in Neuronal Death in Alzheimer's Disease. ACS Chem Neurosci. 2018, 9:870-872.
  • Peplonska B, Berdynski M, Mandecka M, Barczak A, Kuzma-Kozakiewicz M, Barcikowska M, Zekanowski C. - TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients. Amyotroph Lateral Scler Frontotemporal Degener. 2018, 19:407-412.
  • Spólnicka M, Pośpiech E, Adamczyk JG, Freire-Aradas A, Pepłońska B, Zbieć-Piekarska R, Makowska Ż, Pięta A, Lareu MV, Phillips C, Płoski R, Żekanowski C, Branicki W. - Modified aging of elite athletes revealed by analysis of epigenetic age markers. Aging (Albany NY), 2018, 10:241-252.
  • Wezyk M, Szybinska A, Wojsiat J, Szczerba M, Day K, Ronnholm H, Kele M,Berdynski M, Peplonska B, Fichna JP, Ilkowski J, Styczynska M, Barczak A,Zboch M , Filipek-Gliszczynska A, Bojakowski K, Skrzypczak M, Ginalskii K,Kabza M, Makalowska I, Barcikowska-Kotowicz M, Wojda U, Falk A, Zekanowski  C. - Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimers Disease. Journal of Alzheimers disease. 2018; 62 (1) doi:10.3233/JAD-170830.
  • Keskin I, Birve A, Berdynski M, Hjertkvist K, Rofougaran R, Nilsson TK, Glass JD, Marklund SL, Andersen PM. - Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):457-463
  • Spólnicka M, Pośpiech E, Pepłońska B, Zbieć-Piekarska R, Makowska Ż, Pięta A, Karłowska-Pik J, Ziemkiewicz B, Wężyk M, Gasperowicz P, Bednarczuk T, Barcikowska M, Żekanowski C, Płoski R, Branicki W. - DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups. Int J Legal Med. 2017 Jul 19. doi: 10.1007/s00414-017-1636-0.
  • Fichna JP, Potulska-Chromik A, Miszta P, Redowicz MJ, Kaminska AM, Zekanowski C, Filipek S. - A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure. BBA Clin. 2016 Nov 11;7:1-7. eCollection 2017 Jun.
  • Gaweda-Walerych K, Mohagheghi F, Zekanowski C, Buratti E. - Parkinson's disease-related gene variants influence pre-mRNA splicing processes. Neurobiol Aging. 2016 Jul 28;47:127-138. doi: 10.1016/j.neurobiolaging.2016.07.014.
  • Peplonska B, Adamczyk JG, Siewierski M, Safranow K, Maruszak A, Sozanski H, Gajewski AK, Zekanowski C. - Genetic variants associated with physical and mental characteristics of the elite athletes in the Polish population. Scand J Med Sci Sports. 2017 Aug;27(8):788-800. doi: 10.1111/sms.12687. Epub 2016 May 3.