Barbara van Loon
Barbara van Loon
Professor, Co-leader of Clinical Academic Group (CAG) for Rare Genetic Diseases
barbara.v.loon@ntnu.no
About
Short biography:
Barbara van Loon has completed undergraduate studies at the University of Zagreb (Croatia) and was awarded PhD degree with honours from the University of Zurich (Switzerland). After Postdoctoral stay at the Massachusetts Institute of Technology (USA), van Loon returned to the University of Zurich and established her research group. In 2016 van Loon was awarded Onsager Fellowship and joined the Norwegian University of Science and Technology (Norway), Faculty of Medicine and Health Sciences. Van Loon is a full-professor at the Department of Clinical and Molecular Medicine (IKOM) and is a co-leader of Clinical Academic Group (CAG) for Rare Genetic Diseases. Research of Barbara van Loon focuses of understanding how altered genome dynamics, through imbalanced base excision repair (BER), impacts essential cellular processes relevant for physiological and pathological development.
Accumulation of damaged DNA bases underlies aging, cancer development, as well as different brain diseases. To overcome adverse effects thousands of alkylated DNA bases need to be efficiently handled by BER in each cell of our body every day. By combining biochemical, molecular and cell-based assays we recently provided evidence that repair of alkylated bases is in crosstalk with active transcription and impacts gene expression. Using a genome-wide CRISPR/Cas9 screen, we further identified transcriptional components as important modulators of cancer cell responses to alkylating drugs. Through development of novel stem cell and brain organoid models of rare genetic diseases we provide evidence that genome dynamics is essential for human development, to overcome the onset of neurodevelopmental syndromes. For the studies on the cellular response to DNA damage and its impact on cancer and developmental disorders in the nervous system, Barbara van Loon was awarded the 2021 Anders Jahre Young Researcher Award.
Research
Research group: "Genome dynamics during physiological and disease development"
Our research
Numerous lethal and mutagenic DNA lesions are formed upon exposure to endogenous and exogenous damaging agents. The estimated steady-state level of endogenous DNA damage in mammalian cells is high, about 20’000 lesions per cell per day. Aberrant DNA bases represent significant portion of endogenous DNA damage. To maintain the integrity of genetic information organized within chromatin, cells need to efficiently repair the DNA. Accumulation of aberrant DNA bases has been tightly associated with aging, cancer development, as well as the onset of different neurological diseases. Aim of our research is to determine how presence of aberrant DNA bases influences essential cellular processes, like transcription and gene expression, as well as to identify different factors that ensure efficient repair. By using multidisciplinary approaches (including biochemistry, cell biology, genomics, proteomics, 3D culturing, imaging, CRISPR libraries, and computational biology) we focus on identification of pathomechanisms that lead to development of human diseases, in particular of neurodevelopmental disorders and cancer, and which could potentially serve as basis for evolution of novel therapies.
Group members
- Merdane E. Aksu (https://www.ntnu.no/ansatte/merdane.e.aksu)
- Rabina Dumaru (https://www.ntnu.no/ansatte/rabina.dumaru)
- Kayla M. Grooms (https://www.ntnu.edu/employees/kaylag)
- Marte Gjøl Haug (https://www.ntnu.no/ansatte/marte.g.haug)
- Kristin Rian (https://www.ntnu.no/ansatte/kristin.rian)
Master students:
- Martine Engebakken Berg
Publications
2025
-
Ravlo, Erlend;
Ianevski, Aleksandr;
Schjølberg, Jørn-Ove;
Solvang, Vanessa;
Dumaru, Rabina;
Lysvand, Hilde.
(2025)
Synergistic combination of orally available safe-in-man pleconaril, AG7404, and mindeudesivir inhibits enterovirus infections in human cell and organoid cultures.
Cellular and Molecular Life Sciences (CMLS)
Academic article
2024
-
Glærum, Ingvild Lynneberg;
Dunville, Keagan;
Moan, Kristian Magnus;
Krause, Maike;
Montaldo, Nicola Pietro;
Kirikae, Hinaco.
(2024)
Postnatal persistence of hippocampal Cajal-Retzius cells has a critical role in the establishment of the hippocampal circuit.
Development
Academic article
-
Bordin, Diana Lilian;
Grooms, Kayla Mae;
Montaldo, Nicola Pietro;
Fordyce Martin, Sarah Louise;
Sætrom, Pål;
Samson, Leona D..
(2024)
Loss of alkyladenine DNA glycosylase alters gene expression in the developing mouse brain and leads to reduced anxiety and improved memory.
DNA Repair
Academic article
-
Shimada, Kenji;
Tarashev, Cleo V. D.;
Bregenhorn, Stephanie;
Gerhold, Christian B.;
van Loon, Barbara;
Roth, Gregory.
(2024)
TORC2 inhibition triggers yeast chromosome fragmentation through misregulated Base Excision Repair of clustered oxidation events.
Nature Communications
Academic article
2023
-
Andersson-Rusch, Clara Leticia;
Quist-Løkken, Ingrid;
Sætrom, Pål;
Beisvag, Vidar;
Rolinski, Milosz;
Aas, Per Arne.
(2023)
Genome-Wide CRISPR/Cas9 Knock-out Screen Identifies Apoptosis-Relevant Genes in Multiple Myeloma.
Blood
Abstract
-
Lin, Xiaolin;
Wang, Wei;
Yang, Mingyi;
Damseh, Nadirah;
Sousa, Mirta;
Jacob, Fadi.
(2023)
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment.
Genome Biology
Academic article
-
Loevenich, Simon;
Montaldo, Nicola Pietro;
Wickenhagen, Arthur;
Sherstova, Tatyana;
van Loon, Barbara;
Boyartchuk, Victor.
(2023)
Human metapneumovirus driven IFN-β production antagonizes macrophage transcriptional induction of IL1-β in response to bacterial pathogens.
Frontiers in Immunology
Academic article
2022
-
Jang, Sunbok;
Kumar, Namrata;
Schaich, Mathew A.;
Zhong, Zhou;
van Loon, Barbara;
Watkins, Simon C..
(2022)
Cooperative interaction between AAG and UV-DDB in the removal of modified bases.
Nucleic Acids Research (NAR)
Academic article
-
Bittner-Schwerda, L.;
Malama, E.;
Siuda, M.;
van Loon, Barbara;
Bollwein, H..
(2022)
The sperm chromatin structure assay does not detect alterations in sperm chromatin structure induced by hydrogen peroxide.
Animal Reproduction Science
Academic article
2021
-
Aprigliano, Rossana;
Aksu, Merdane Ezgi;
Bradamante, Stefano;
Mihaljevic, Boris;
Wang, Wei;
Rian, Kristin.
(2021)
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
Cell Reports Medicine
Academic article
-
Rolinski, Milosz;
Montaldo, Nicola Pietro;
Aksu, Merdane Ezgi;
Martin, Sarah Fordyce;
Brambilla, Alessandro;
Kunath, Nicolas.
(2021)
Loss of Mediator complex subunit 13 (MED13) promotes resistance to alkylation through cyclin D1 upregulation.
Nucleic Acids Research (NAR)
Academic article
2019
-
Montaldo, Nicola Pietro;
Bordin, Diana Lilian;
Brambilla, Alessandro;
Rösinger, Marcel;
Martin, Sarah Fordyce;
Bjørås, Karine Øian.
(2019)
Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression.
Nature Communications
Academic article
2018
-
Bosshard, Matthias;
Aprigliano, Rossana;
Gattiker, Cristina;
Palibrk, Vuk;
Markkanen, Enni;
Backe, Paul Hoff.
(2018)
Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.
Scientific Reports
Errata
-
Valla, Marit;
Mjønes, Patricia;
Engstrøm, Monica J;
Ytterhus, Borgny;
Bordin, Diana Lilian;
van Loon, Barbara.
(2018)
Characterization of FGD5 expression in primary breast cancers and lymph node metastases.
Journal of Histochemistry and Cytochemistry
Academic article
-
Bittner, Lilli;
Wyck, Sarah;
Herrera, Carolina;
Siuda, M;
Wrenzycki, Christine;
van Loon, Barbara.
(2018)
Negative effects of oxidative stress in bovine spermatozoa on in vitro development and DNA integrity of embryos.
Reproduction, Fertility and Development
Academic article
2017
-
Moortgat, Stéphanie;
Berland, Siren;
Aukrust, Ingvild;
Maystadt, Isabelle;
Baker, Laura;
Benoit, Valerie.
(2017)
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
European Journal of Human Genetics
Academic article
-
Mentegari, Elisa;
Crespan, Emmanuele;
Bavagnoli, Laura;
Kissova, Miroslava;
Bertoletti, Federica;
Sabbioneda, Simone.
(2017)
Ribonucleotide incorporation by human DNA polymerase η impacts translesion synthesis and RNase H2 activity.
Nucleic Acids Research (NAR)
Academic article
-
Bosshard, Matthias;
Aprigliano, Rossana;
Gattiker, Cristina;
Palibrk, Vuk;
Markkanen, Enni;
Backe, Paul Hoff.
(2017)
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.
Scientific Reports
Academic article
-
van Loon, Barbara;
Hübscher, Ulrich;
Maga, Giovanni.
(2017)
Living on the edge: DNA polymerase lambda between genome stability and mutagenesis.
Chemical Research in Toxicology
Academic literature review
-
Martin-Pardillos, Ana;
Tsaalbi-Shtylik, Anastasia;
Chen, Si;
Lazare, Seka;
Van Os, Ronald P;
Dethmers-Ausema, Albertina.
(2017)
Genomic and functional integrity of the hematopoietic system requires tolerance of oxidative DNA lesions.
Blood
Academic article
2016
-
Räz, Michael H;
Dexter, Hannah R;
Millington, Christopher L;
van Loon, Barbara;
Williams, David M;
Sturla, Shana J.
(2016)
Bypass of Mutagenic O6-Carboxymethylguanine DNA Adducts by Human Y- and B-Family Polymerases.
Chemical Research in Toxicology
Academic article
Journal publications
-
Ravlo, Erlend;
Ianevski, Aleksandr;
Schjølberg, Jørn-Ove;
Solvang, Vanessa;
Dumaru, Rabina;
Lysvand, Hilde.
(2025)
Synergistic combination of orally available safe-in-man pleconaril, AG7404, and mindeudesivir inhibits enterovirus infections in human cell and organoid cultures.
Cellular and Molecular Life Sciences (CMLS)
Academic article
-
Glærum, Ingvild Lynneberg;
Dunville, Keagan;
Moan, Kristian Magnus;
Krause, Maike;
Montaldo, Nicola Pietro;
Kirikae, Hinaco.
(2024)
Postnatal persistence of hippocampal Cajal-Retzius cells has a critical role in the establishment of the hippocampal circuit.
Development
Academic article
-
Bordin, Diana Lilian;
Grooms, Kayla Mae;
Montaldo, Nicola Pietro;
Fordyce Martin, Sarah Louise;
Sætrom, Pål;
Samson, Leona D..
(2024)
Loss of alkyladenine DNA glycosylase alters gene expression in the developing mouse brain and leads to reduced anxiety and improved memory.
DNA Repair
Academic article
-
Shimada, Kenji;
Tarashev, Cleo V. D.;
Bregenhorn, Stephanie;
Gerhold, Christian B.;
van Loon, Barbara;
Roth, Gregory.
(2024)
TORC2 inhibition triggers yeast chromosome fragmentation through misregulated Base Excision Repair of clustered oxidation events.
Nature Communications
Academic article
-
Andersson-Rusch, Clara Leticia;
Quist-Løkken, Ingrid;
Sætrom, Pål;
Beisvag, Vidar;
Rolinski, Milosz;
Aas, Per Arne.
(2023)
Genome-Wide CRISPR/Cas9 Knock-out Screen Identifies Apoptosis-Relevant Genes in Multiple Myeloma.
Blood
Abstract
-
Lin, Xiaolin;
Wang, Wei;
Yang, Mingyi;
Damseh, Nadirah;
Sousa, Mirta;
Jacob, Fadi.
(2023)
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment.
Genome Biology
Academic article
-
Loevenich, Simon;
Montaldo, Nicola Pietro;
Wickenhagen, Arthur;
Sherstova, Tatyana;
van Loon, Barbara;
Boyartchuk, Victor.
(2023)
Human metapneumovirus driven IFN-β production antagonizes macrophage transcriptional induction of IL1-β in response to bacterial pathogens.
Frontiers in Immunology
Academic article
-
Jang, Sunbok;
Kumar, Namrata;
Schaich, Mathew A.;
Zhong, Zhou;
van Loon, Barbara;
Watkins, Simon C..
(2022)
Cooperative interaction between AAG and UV-DDB in the removal of modified bases.
Nucleic Acids Research (NAR)
Academic article
-
Bittner-Schwerda, L.;
Malama, E.;
Siuda, M.;
van Loon, Barbara;
Bollwein, H..
(2022)
The sperm chromatin structure assay does not detect alterations in sperm chromatin structure induced by hydrogen peroxide.
Animal Reproduction Science
Academic article
-
Aprigliano, Rossana;
Aksu, Merdane Ezgi;
Bradamante, Stefano;
Mihaljevic, Boris;
Wang, Wei;
Rian, Kristin.
(2021)
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
Cell Reports Medicine
Academic article
-
Rolinski, Milosz;
Montaldo, Nicola Pietro;
Aksu, Merdane Ezgi;
Martin, Sarah Fordyce;
Brambilla, Alessandro;
Kunath, Nicolas.
(2021)
Loss of Mediator complex subunit 13 (MED13) promotes resistance to alkylation through cyclin D1 upregulation.
Nucleic Acids Research (NAR)
Academic article
-
Montaldo, Nicola Pietro;
Bordin, Diana Lilian;
Brambilla, Alessandro;
Rösinger, Marcel;
Martin, Sarah Fordyce;
Bjørås, Karine Øian.
(2019)
Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression.
Nature Communications
Academic article
-
Bosshard, Matthias;
Aprigliano, Rossana;
Gattiker, Cristina;
Palibrk, Vuk;
Markkanen, Enni;
Backe, Paul Hoff.
(2018)
Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.
Scientific Reports
Errata
-
Valla, Marit;
Mjønes, Patricia;
Engstrøm, Monica J;
Ytterhus, Borgny;
Bordin, Diana Lilian;
van Loon, Barbara.
(2018)
Characterization of FGD5 expression in primary breast cancers and lymph node metastases.
Journal of Histochemistry and Cytochemistry
Academic article
-
Bittner, Lilli;
Wyck, Sarah;
Herrera, Carolina;
Siuda, M;
Wrenzycki, Christine;
van Loon, Barbara.
(2018)
Negative effects of oxidative stress in bovine spermatozoa on in vitro development and DNA integrity of embryos.
Reproduction, Fertility and Development
Academic article
-
Moortgat, Stéphanie;
Berland, Siren;
Aukrust, Ingvild;
Maystadt, Isabelle;
Baker, Laura;
Benoit, Valerie.
(2017)
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
European Journal of Human Genetics
Academic article
-
Mentegari, Elisa;
Crespan, Emmanuele;
Bavagnoli, Laura;
Kissova, Miroslava;
Bertoletti, Federica;
Sabbioneda, Simone.
(2017)
Ribonucleotide incorporation by human DNA polymerase η impacts translesion synthesis and RNase H2 activity.
Nucleic Acids Research (NAR)
Academic article
-
Bosshard, Matthias;
Aprigliano, Rossana;
Gattiker, Cristina;
Palibrk, Vuk;
Markkanen, Enni;
Backe, Paul Hoff.
(2017)
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.
Scientific Reports
Academic article
-
van Loon, Barbara;
Hübscher, Ulrich;
Maga, Giovanni.
(2017)
Living on the edge: DNA polymerase lambda between genome stability and mutagenesis.
Chemical Research in Toxicology
Academic literature review
-
Martin-Pardillos, Ana;
Tsaalbi-Shtylik, Anastasia;
Chen, Si;
Lazare, Seka;
Van Os, Ronald P;
Dethmers-Ausema, Albertina.
(2017)
Genomic and functional integrity of the hematopoietic system requires tolerance of oxidative DNA lesions.
Blood
Academic article
-
Räz, Michael H;
Dexter, Hannah R;
Millington, Christopher L;
van Loon, Barbara;
Williams, David M;
Sturla, Shana J.
(2016)
Bypass of Mutagenic O6-Carboxymethylguanine DNA Adducts by Human Y- and B-Family Polymerases.
Chemical Research in Toxicology
Academic article
Teaching
Courses
- MOL3000 - Introduction to Molecular Medicine
- MOL3100 - Introduction to Molecular Medicine with Project
- MOL3001 - Medical Genetics
Supervision
Currently supervising one Master Students and three PhD students, two as main supervisor and one as a co-supervisor.
Outreach
Norsk klinisk-akademisk gruppe vil øke kompetansen på metakromatisk leukodystrofi
Helse Midt-Norge har opprettet en klinisk-akademisk gruppe for å øke kompetansen på diagnostisering, oppfølging og behandling av sjeldne, genetiske sykdommer. Gruppen skal blant annet se nærmere på metakromatisk leukodystrofi (MLD).
Keeping DNA healthy
DNA contains information of life and is an essential biomolecule in each cell of our body. To stay healthy, it is crucial to preserve DNA information. In this TEDx talk I discusses how we can contribute to keeping healthy our DNA and with it ourselves.
Dyrket minihjerner og fant nøkkelen til uvanlige syndrom
NTNU-forsker fant at flere sjeldne diagnoser har en felles årsak. «Skurken» er også kjent for å forårsake kreft.
Mini-brains reveal cause of rare syndromes
The culprit behind a large number of cancerous tumours is known to be a certain protein. Now for the first time, research shows that the same protein is the cause of several rare brain syndromes.
Fant samtalen som finner sted i menneskets DNA
Et nytt funn om hvordan celler reparerer seg selv, kan ha betydning for hvordan fremtidens kreftmedisiner skal lages.
Cross-talk between enzymes that read and correct recipes in the cookbook of life
Even the best chef can make mistakes – even when using the recipes (genes) from the “cookbook of life” — DNA. A new discovery as to how cells repair their DNA may have implications for the future drug development.
Skrur av gener for å finne bedre kreftbehandling
Hvilke celler dør og hvilke overlever når de blir behandlet med en spesiell type cellegift? Svaret kan gi kreftsyke en mer effektiv behandling med færre bivirkninger.
Turning genes off for better cancer treatment
Towards new cancer treatments.
2024
-
PosterAndersson-Rusch, Clara; Quist-Løkken, Ingrid; Sætrom, Pål; Hanif, Md Abu; Rolinski, Milosz; Møen, Johanna. (2024) Whole genome CRISPR knockout screen reveals key function for ID3 in regulating myeloma cell survival via TCF3 and c-MYC. FASEB TGF-β Superfamily , Niagara Falls, NY 2024-07-21 - 2024-07-25
2023
-
PosterAndersson-Rusch, Clara Leticia; Quist-Løkken, Ingrid; Sætrom, Pål; Beisvag, Vidar; Rolinski, Milosz; Møen, Johanna. (2023) Genome-Wide CRISPR/Cas9 Knock-out Screen Identifies Apoptosis-Relevant Genes in Multiple Myeloma. American Society of Hematology 65th ASH Annual Meeting and Exposition 2023-12-09 - 2023-12-12
2019
-
PosterAnthonsen, Marit Walbye; Boyartchuk, Victor; Loevenich, Simon; van Loon, Barbara; Montaldo, Nicola Pietro; Sherstova, Tatyana. (2019) Human metapneumovirus impairs antibacterial transcription by introducing H3K27 trimethylation at the IL1B promoter. CEMIR/NTNU Conference on Molecular Mechanisms of Inflammation , Trondheim 2019-06-03 - 2019-06-06