Profile photo Sabine Fuchs

Sabine Fuchs

Full Professor

Biography

Sabine Fuchs is professor Metabolic Diseases and Innovative Therapies. She combines her clinical work as pediatrician in Metabolic Diseases with leading a research group in the Regenerative Medical Center Utrecht in the Hubrecht Institute.

To address the enormous unmet need in care for patients with metabolic diseases, she employs innovative strategies like patient-derived liver organoids and precise gene editing to develop treatments for these patients. She continuously strives to improve personalized disease modelling (Ardisasmita ea. Commun Biol 2022) and developed an improved liver organoid model (https://www.biorxiv.org/content/10.1101/2024.10.29.620824v1), resulting in a spin-off company HeLLO R&D (winner of the NWO-Take-off grant 2024, the proefdiervrij Venture Challenge 2024, the UREKA challenge 2024, the Biotech Booster Grant 2024, and the Utrecht Holding Voucher 2024).

Having built a large metabolic biobank containing >300 patient-derived organoid lines, her team was the first to demonstrate that prime editing can restore disease phenotypes both genetically and functionally in patient-derived intestinal and liver organoids without causing unwanted genetic effects (Schene ea. Nat Commun 2020). To quickly adapt the prime-editing tools to the many different patient mutations, her team developed an innovative fluorescent reporter (Schene ea. Nat Commun 2022). This infrastructure and expertise allowed her to set up a gene-correction program targeting the liver using lipid nanoparticle-mediated mRNA delivery. With evolving delivery technologies (including virus-like particles), she now also targets other organs. For this work, she was awarded prestigious grants (ERC Proof of Concept, ERC Starting, ZonMW VICI, ZonMW Clinical Fellows, and ZonMW AGICO grants) and prizes (KNAW-Ammodo Science Award for Groundbreaking Research, Elisabeth von Freyburg penning).

She is dedicated to translational research and strives to inspire translational scientists by participating in the EUREKA certificate program, the Utrecht Translational Medicine Summer School and TULIPS (Training Upcoming Leaders In Pediatric Science). To further stimulate “doing the right research right”, she is member of the UMCU Open Science Team and UMCU representative in the UU Open Science Platform.

Recent publications

Therapeutic Application of mRNA for Genetic Diseases Paul J.L. Schürmann, Stijn P.E. van Breda Vriesman, Jose A. Castro-Alpízar, Sander A.A. Kooijmans, Edward E.S. Nieuwenhuis, Raymond M. Schiffelers, Sabine A. Fuchs
Wiley Interdisciplinary Reviews: Nanomedicine and Nanobiotechnology, 2025, vol. 17
Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies Eva M.M. Hoytema van Konijnenburg, Joline Rohof, Gautam Kok, Peter M. van Hasselt, Clara D. van Karnebeek, Irena J.J. Muffels, Sabine A. Fuchs
Journal of Inherited Metabolic Disease, 2025, vol. 48
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance Irena Josephina Johanna Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L.I. Gassen, Holger Rehmann, Desiree Y. Van Haaften-Visser, Edward S.S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke Wijk, Peter van Hasselt
Genome Medicine, 2025, vol. 17
Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients Irena J.J. Muffels, Richard Rodenburg, Hanneke L.D. Willemen, Désirée van Haaften-Visser, Hans Waterham, Niels Eijkelkamp, Sabine A. Fuchs, Peter M. van Hasselt
iScience, 2025, vol. 28
Novel hepatocyte-like liver organoids recapitulate crucial mature hepatic functions Ibrahim Ardisasmita, Indi Joore, Natacha Levy, A. Myszczyszyn, Ary Marsee, Theo Sinnige, J. Ruiter, Sacha Ferdinandusse, Oksana Dudaryeva, E. Gruber, V. Daive, Riccardo Levato, Bart Spee, Monique Ma Verstegen, L.J.W. van der Laan, E.E.S. Nieuwenhuis , Imre Schene, Sabine Fuchs
2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation Gautam Kok, Imre F Schene, Eveline F Ilcken, Paula Sobrevals Alcaraz, Marisa I Mendes, Desiree E C Smith, Gajja Salomons, Sawsan Shehata, Judith J M Jans, Reza Maroofian, Tim A Hoek, Robert M van Es, Holger Rehmann, Edward E S Nieuwenhuis, Harmjan R Vos, Sabine A Fuchs
Nucleic acids research, 2024, vol. 53

Fellowships & Awards

2024      200.000 €              Biotech Booster: HeLLO

2024      150.000 €              ERC Proof of Concept grant: IMPACT            

2024   1.500.000 €              ZonMW VICI: in vivo gene correction: beyond deLIVERy

2024        15.000                Tjallingh Roorda Stichting: Genetic correction therapies for children with

mitochondrial disease (PhDs EI&PS; supervision Fuchs)

2024      354.000 €              Piet Poortman fund: Gene correction therapies targeting the brain

2024        62.500 €               Patient funding: mRNA therapies for metabolic diseases

2024      370.000               Hersenstichting: gene correction for Northsea Disease (co-application with de Koning)

2024      100.000 €              Takeda COCKPI grant: LNP-mediated correction of PFIC-causing mutations in patient-derived liver models

2023        15.000                Tjallingh Roorda Stichting: Amino acid treatment for patients with mitochondrial ARS deficiencies (fellow EH, guided by Fuchs)

2023      154.000               Metakids / UMD: Unlocking the mitochondrial genome (gene correction for MELAS)

2022   8.111.335 €              NWA-ORC: Nanospresso-NL: Local preparation of high-quality, personalized nucleic acid nanomedicines (Co-applicant; main applicant: Ray Schiffelers)

2022   1.200.000 €              KNAW Ammodo Science Award for Ground Breaking Research: PI S. Fuchs, Team: H. Clevers, E. Nieuwenhuis, R. van Boxtel, A. Bredenoord

2022        15.000                Tjallingh Roorda Stichting: Mitochondrial gene correction for mitochondrial disease (postdoc MK, guided by S. Fuchs)

2021   1.500.000 €              ERC Starting Grant: Prime editing to Repair Inborn Metabolic Errors

2021         15.000 €              Child Health Boost grant: Broadening the scope of prime editors for efficient correction of untreatable cystic fibrosis mutations (PhD-student IS/S. Fuchs)

2020         15.000               Tjallingh Roorda Stichting: Mitochondrial transplantation as a novel therapy for patients with mitochondrial disease (PhD-student AO, supervised by S. Fuchs)

2020         15.000               Metakids / UMD: Energising patients with inherited metabolic diseases (Co-applicant; main applicant: M. Langeveld, Amsterdam UMC)

2020         15.000               Metakids / UMD: Improving hepatic engraftment by generating adult hepatocyte organoid cultures (S. Fuchs with PhD student IJ)

2019       250.000              Metakids / UMD: New ways, better outcomes: n-of-1 for all (Co-applicant; main applicant: prof. v Karnebeek, Nijmegen MC & Amsterdam UMC)

2019       250.000               Metakids / UMD: The promise of messenger RNA for IEMs: advancing tissue targeting (application with W. Pijnappel Erasmus MC / B. Smeets & E. Rubio MUMC)

2019       250.000               Elisabeth von Freyburg Stichting: Better Care for the Rare – testing new treatments in mini-organs with genetic diseases (main applicant, with J. Beekman, RMCU)

2019       259.500               Metakids / PNOzorg: Every child should be able to sport, also children with a disease in fatty acid oxydation

2017       749.328               Open Technology program: Biofabrication of liver constructs for hepatotoxicity testing and personalized medicine approaches (Co-applicant, Main applicant: Spee)

2016       147.500               ERC proof of concept grant: Toxanoid: pharmacological safety testing in human adult stem cell-derived organoids (Co-applicant, Main applicant: H. Gehart)

2016       388.829               Metakids Research Funding / Vriendenloterij: Towards a new in vitro model for metabolic diseases

2016           5.000               Elisabeth von Freyburg penning, prize for young promising internationally recognized researcher

2015       152.934               MLDS foundation: Liver organoids as a unique patient derived in vitro model to study ATP8B1 deficiency and test novel therapeutic strategies

2015         10.000               Stofwisselkracht: Liver stem cells for treatment of metabolic diseases               

2015         50.000               Metakids Research Funding: Towards a new in vitro model for inborn errors of metabolism

2015       100.000               ZonMW Ethiek en Gezondheid: The ethics of first in human organoid transplantation (Co-applicant, Main applicant: Bredenoord) 

2014       160.000               ZonMW Klinische Fellows: Stem cell based strategies for patients with liver disease

2013         75.000               Metakids Research Fund: Liver stem cell transplantation – new treatment option for metabolic disease?

2011   2.000.000               ZonMW TAS: Regenerating Intestinal Tissue with Stem cells (RITS); since 2014 redirected towards liver; application with H. Clevers & E. Nieuwenhuis)

2004         63.530               NWO (ZONMW)-AGIKO stipendium (920-03-345): the role of D-serine in perinatal asphyxia; a new candidate for pharmacologic intervention?