Dr
Klaudia
Kocsy
(she/her)
BA, BSc, MSc, PhD
School of Medicine and Population Health
Alzheimer’s Research UK Fellow
Full contact details
Room B10
Sheffield Institute for Translational Neuroscience (SITraN)
- Profile
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I am an Alzheimer’s Research UK Fellow at the University of Sheffield’s Institute for Translational Neuroscience (SITraN). I specialise in gene therapy and advanced molecular approaches for monogenic cerebral small vessel diseases caused by mutations in collagen genes.
My research focuses on COL4A1/COL4A2-related disorders, also known as Gould syndrome. I use patient-derived vascular cells to understand how disease-associated variants affect blood vessel function and to test treatments that target the underlying cause.
Further information about my research into therapies for cerebral small vessel disease is available at the CSVD Therapeutics website.
- Qualifications
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- PhD in Medicine, University of Sheffield, UK (2022)
- MSc in Cell and Molecular Biology, University of Szeged, Hungary (2017)
- BSc in Biology, University of Szeged, Hungary (2015)
- BA in Scientific Translation, University of Szeged, Hungary (2014)
- Research interests
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The goal of my research is to develop therapies for genetic collagen disorders:
1. Development of patient-derived induced pluripotent stem cell (iPSC) models of endothelial cells, vascular smooth muscle cells and pericytes to study disease mechanisms and test therapies.
2. Repurposing small compounds to alleviate the downstream effects of COL4A1 mutations, tested in both patient-derived cells and mouse models.
3. Gene therapy and gene editing approaches for COL4A1 and COL4A2 variants, currently under development in patient-derived cells.
4. Gene therapy approaches for vascular Ehlers-Danlos syndrome caused by variants in the COL3A1 gene.
5. Development of lipid nanoparticles (LNPs) to deliver gene therapies or drugs to vascular cells in order to treat these disorders.
If you are interested in my research as a prospective student, please do not hesitate to contact me.
- Publications
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Journal articles
- Gene editing for collagen disorders: current advances and future perspectives. Gene Therapy, 32(6), 676-689. View this article in WRRO
- The role of NOTCH3 in CADASIL pathogenesis: insights into novel therapies. Brain Research, 1863, 149754-149754.
- Reprogramming human macrophages in symptomatic carotid stenosis: Stabilization of atherosclerotic carotid plaques. Atherosclerosis, 404, 119180-119180. View this article in WRRO
- Tribbles 3 deficiency promotes atherosclerotic fibrous cap thickening and macrophage-mediated extracellular matrix remodelling. Frontiers in Cardiovascular Medicine, 9. View this article in WRRO
- The kinesin gene KIF26B modulates the severity of post-traumatic heterotopic ossification. International Journal of Molecular Sciences, 23(16). View this article in WRRO
- Genome-wide association and functional analyses identify CASC20 and KIF26B as target loci in heterotopic ossification.
- BS22 Double positive (CD86+ MRC1+) inflammatory macrophages in the pathogenesis of carotid atherosclerosis. Basic Science, A155.2-A155.
- Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing. PLOS ONE, 12(4). View this article in WRRO
- Correction: Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians. PLOS ONE, 13(11), e0208295-e0208295.
- Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians. PLOS ONE, 13(10), e0205920-e0205920.
Conference proceedings
- Modulating The Role And Function Of Macrophages In Human Symptomatic Carotid Stenosis: Potential Mechanisms For Stabilisation Of Atherosclerotic Carotid Plaques. INTERNATIONAL JOURNAL OF STROKE, Vol. 19(3_SUPPL) (pp 39-39)
- BS1 Reprogramming human macrophages with drug X: potential mechanisms for stabilisation of atherosclerotic plaques. Basic science (pp A156.1-A156)
- P16 HUMAN MACROPHAGE SUBSETS IN THE PATHOGENESIS OF CAROTID ATHEROSCLEROSIS. Cardiovascular Research, Vol. 114(suppl_2) (pp S5-S6)
- 116 Semi-quantitative imaging of macrophages in human carotid atherosclerotic plaques. Basic Science (pp A90.1-A90)
Preprints
- Targeting COL4A1-Related Small Vessel Disease: Repurposed Pharmacotherapies for Genetic Vasculopathies, openRxiv.
- Reprogramming Human Inflammatory Macrophages in Symptomatic Carotid Stenosis: Potential Mechanisms for Stabilisation of Atherosclerotic Carotid Plaques, openRxiv.
- Mitogenomic data indicate admixture components of Asian Hun and Srubnaya origin in the Hungarian Conquerors, openRxiv.
- Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing, openRxiv.
- Gene editing for collagen disorders: current advances and future perspectives. Gene Therapy, 32(6), 676-689. View this article in WRRO
- Research group
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PhD students:
- Kieran PJ Cawley (2026-present)
- Harry Wilkinson (2023-present)
Visiting scholar:
- Dr Güven Akçay (2026-2027)
MSc students:
- Kieran PJ Cawley (2026)
- Dragos M Margarint (2025)
- Zuzanna M Sokolowska (2025)
- Luke F Bolger (2023)
BSc student:
- Zuzanna M Sokolowska (2024)
- Grants
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- Philanthropy, 2026, £25,000
- BHF, Discovery Research PhD Studentship, 2026, £135,000
- Sheffield Children’s Hospital Charity funding, 2026, £50,000
- Alzheimer’s Research UK, Research Fellowship, 2025, £267,000
- Teaching activities
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I have taught on the “Principles of Gene and Cell Therapies” and “Clinical Developments in Cell & Gene Therapies” modules.
I supervise MSc and PhD research projects, supporting students with experimental design, laboratory methods, data analysis and scientific writing.