Head
prof. Cezary Żekanowski PhD, DSc; This email address is being protected from spambots. You need JavaScript enabled to view it.
Research staff
Beata Borzemska PhD, DSc; This email address is being protected from spambots. You need JavaScript enabled to view it.
Mariusz Berdyński PhD, 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. 
Jakub P. Fichna PhD, This email address is being protected from spambots. You need JavaScript enabled to view it.
Katarzyna Gawęda-Walerych 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.
Adam Figarski MD, 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.
 

Research profile
• Identification and characterization of mutations and genomic variants connected with clinical phenotypes of neurodegenerative disorders as well as muscle, neurodevelopmental, and neuropsychiatric disorders;
• Studying of molecular and cellular processes (e.g.: associated with functioning of mitochondria and mitophagy)underlying diseases from FTD spectrum caused by PGRN, MAPT, and C9orf72 mutations and variants;
• Analysis of functional basis of familial and sporadic Alzheimer’s disease, as well as mild cognitive impairment (MCI) using iPS, NES, GABA- and glutaminergic , glial cells models, and 3D organoids;
• Advanced differentia clinical diagnosis of the vast spectrum of neurodegenerative disorders;
• Searching and bioinformatic characterization of mitochondrial and nuclear genomic variants associated with elite athlete phenotype.

Grants
• “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
• 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
• University of California, Santa Barbara, USA

Research equipment
  • Apparatus for molecular biology: electrophoresis and blotting equipment (Bio-Rad), laminar flow chamber PCR HEPA UV3 PCR (Streamline), five thermocyclers (Applied Biosystems, BioRad, Biometra), five 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.
  • Apparatus for cel biology: 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 publications
  • 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.
  • 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 CBerdyński 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 JPMaruszak AŻekanowski 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 MBarczak 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 MZekanowski C. - Role of BRCA1 in Neuronal Death in Alzheimer's Disease. ACS Chem Neurosci. 2018, 9:870-872.
  • Peplonska BBerdynski MMandecka MBarczak 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.