dr. S.A. (S.A.) Fuchs

dr. S.A. (S.A.) Fuchs

Associate Professor - medical
dr. S.A. (S.A.) Fuchs
  • Metabolic diseases patient care



I am a pediatrician in metabolic diseases and associate professor at the UMC-Utrecht. After living in France for 4 years (Lycée International, St Germain-en-Laye), I finished secondary school at the St. Maartenscollege, Maastricht (gymnasium, cum laude). For 1 year, I studied Spanish in Granada (Colegio Nueva Universidad de Granada), followed by pharmacy (doctoral & postdoctoral; cum laude) and medicine (doctoral & postdoctoral; cum laude) at the University of Utrecht, including a 6-month research project in Edinburgh (prof. Webb) and an internship in Boston (Harvard Medical School). I combined pediatric training with a PhD in metabolic diseases (UMC-Utrecht; ZonMW AGIKO grant), and received 3 children (2005, 2007, 2009). Subsequently, I specialized in metabolic/genetic diseases, while setting up my own research-line (ZonMW Klinische Fellows grant). I now combine my work as a pediatrician in metabolic diseases with a PI position in the RMCU (Hubrecht Institute). My research group currently consists of 1 postdoc researcher, 9 PhD-students, 1 technician and several master students. My research is supported by numerous grants (total received as main applicant: €1.742.725; as co-applicant:€2.996.828 (of which assigned to me: € 1.020.000)), prestigious prizes (including the Elisabeth von Freyburg penning (2016),nomination for the Ammodo Fundamental Science Award by prof. Clevers, 2020), and talent programs (Eureka Certificate Course 2011, Leading Ladies program 2013-2019, Steyn Parvé program 2018-2019).


As a pediatrician in metabolic diseases, I am painfully aware of the limitations in care for our patients. Trained as a pharmacist and pediatrician, working as a scientist in a prestigious science park and a clinician in an academic hospital, facilitated for innovative treatment strategies, and living in a time of unprecedented technological possibilities, I am in a unique position to pursue my ambition: “Better Care for the Rare”


Improving diagnostics

Implementation of metabolic diseases in the neonatal screening program enables early detection and treatment to prevent irreversible damage, but also yields novel patient cohorts, with unknown clinical phenotypes. As the national NFU-acknowledged expertise center for long chain fatty acid oxidation disorders, my group performs standardized national follow-up in our multidisciplinary 1-day diagnostic/follow-up facility (Sylvia Toth Center) to better interpret novel “screening-mutations”. We develop innovative exercise tests to provide individualized exercise protocols for all Dutch patients >6 years and prepare to test ketone drinks to improve muscle function and general condition (PhD-student M.S., Metakids grant) in collaboration with Visser (UMCU) & Houtkooper/Wanders (Amsterdam UMC).

Diagnostic use of whole exome sequencing unveils many (novel) genetic diagnoses and variants of unknown significance. To understand functional consequences, we analyze genomic results, perform (un)targeted assays in patient-derived materials (body fluids, cells, organoids), and deep phenotype the patients (PhD-student I.M., Metakids and WKZ grants) in collaboration with our metabolic (vHasselt/Verhoeven) and genomics (vGassen/Mokry/vBoxtel) facilities.

To perform these assays, I set up liver organoid technology in our lab in collaboration with the Clevers-group. We keep optimizing our protocols to improve hepatic modeling (PhD-students I.J. and I.A, ZonMW TAS, UMD grants), also exploring liver biofabrication in collaboration with Spee (UU) (PhD-student V.L., NWO-TTW grant). We also generate organoids from other organs, including intestine and endometrium (PhD-student B.B. in collaboration with the gynecology department (UMCU: Broekman, Leuven: Vankelecom)). I have generated a biobank for biological material (including organoids, fibroblasts, body fluids) from currently >200 patients, suspected of genetic/metabolic disease (Metabolic Biobank 19-489).

We set up functional assays in organoids (PhD-student I.S., Metakids, MLDS grants, patient-funding) to study energy metabolism in collaboration with Houtkooper/Wanders (Amsterdam UMC); bile salt excretion and polarity with vdWoerd/Houwen (UMCU), vdGraaf (Amsterdam UMC); diseases in protein translation with Vos (UMCU), Tanenbaum (Hubrecht Institute) and Agami (NKI), and drug metabolism with Huch/Gehart (ERC proof-of-concept grant).


Improving therapies

These functional assays enable personalized treatment testing. For diseases in protein translation (ARS-deficiencies), we developed a fibroblast amino acid sensitivity assay, generating insight in the disease mechanism and treatment possibilities. Subsequently, we treated 8 patients with beneficial results (PhD-student G.K., Metakids grant) in collaboration with vKarnebeek/Salomons (Amsterdam UMC). We are now applying for an NFU-recognized expertise center for ARS-deficiencies and perform fibroblast analyses for many (inter)national ARS-deficient patients.

Using functional assays in patient-derived organoids, we test compounds correcting general molecular mechanisms (read-through agents, protease inhibitors, protein folding correctors, mRNA) (postdoc M.K., Elisabeth von Freyburg grant) in collaboration with Beekman (RMCU). Using our energy metabolism assays, we test (dietary) interventions (PhD-student I.M., Metakids grant) in collaboration with the Hoeijmakers-group (PMC), and mitochondrial transplantations (PhD-student A.O, Tjallingh Roorda grant) in collaboration with McCully (Harvard Medical School).

As an innovative treatment strategy, I prepare to use allogenic and gene-corrected autologous organoids for first-in-human liver organoid transplantations (PhD-students I.J. and I.A., ZonMW TAS) in collaboration with Clevers (Hubrecht Institute), Spee (UU), Bredenoord (UMCU, parallel ethical research, ZonMW Ethiek&Gezondheid grant), vBoxtel (PMC). In parallel, I aim to develop a systemic in vivo gene correction program targeting the liver.


Supporting clinician-scientists

To inspire (clinician-)scientists to perform research with impact on patients/society, I was chair (2013-2015), member of the Board (2015-2019) and Advisory Board (since 2019) of TULIPS (Training Upcoming Leaders In Pediatric Science), I organized the Utrecht Translational Medicine Summer School (Organizing Committee-member since 2016), and I am member of the Program Committee (since 2019) and Strategic Team (since 2020) of the EUREKA Certificate Program for Translational Medicine.  

Side Activities

2020 – now                          Member of the Strategic Team of the EUREKA Certificate Program for Translational Medicine, Siracusa, Italië (

2019 – now                          Member of the Advisory Board of TULIPS (Training Upcoming leaders in Paediatric Science), an organization devoted to improving child health by empowering young clinician scientists to achieve high quality research 

2019 – now                          Member of the Program Committee of the EUREKA Certificate Program for Translational Medicine, Siracusa, Italië (

2018 – now                          Participant in the national initiative “United for Metabolic Diseases” (UMD), member of work package “innovative treatments & treatment outcomes”       

2018 - now                           Member of the Selection Committee of the NVK young investigators award

2018 - now                           Member of the Selection Committee for the Child Health boost grant

2017 – now                          Research Coördinator of the departments metabolic diseases, gastroenterology/ hepatology, endocrinology and nephrology (UMCU)

2015 – now                          Organizing Committee of the Utrecht Translational Medicine Summerschool – Eureka Institute and Science in Transition (course 2016, 2017 and 2018)

2013 – now                          Member of the educational review board evaluating metabolic training facilities in metabolic centres in the Netherlands

2016                                      Creation of the E-learning module Translational Medicine (together with dr. S. Brugman) for EUREKA Certificate Program for Translational Medicine

2018 – 2019                         Selected member of the Elisabeth Steyn Parvé female talent program of the UMC Utrecht

2013 – 2019                         Participant of the Leading Ladies Program, a prestigious program encouraging talent development for 5 selected female clinician-scientists in the WKZ-UMC

2015 – 2019                         Board member of TULIPS

2013 – 2015                         Chair of the board of TULIPS

2010                                      Selected participant of the EUREKA Certificate Program for Translational Medicine, Siracuse, Italy

Fellowship and Awards

2020                                      ESN-Stimulerings prijs (to PhD-student Gautam Kok)

2020                                      Tjallingh Roorda Stichting: Mitochondrial transplantation as a novel therapy for patients with mitochondrial disease

2020                                      Metakids / UMD: Energising patients with inherited metabolic diseases

2020                                      Metakids / UMD:Improving hepatic engraftment by generating adult hepatocyte organoid cultures

2019                                      Metakids / UMD: New ways, better outcomes: n-of-1 for all

2019                                      Metakids / UMD: The promise of messenger RNA as treatment approach for inborn errors of metabolism: advancing tissue targeting

2019                                      Elisabeth von Freyburg Stichting: Better Care for the Rare – nieuwe behandelingen testen in mini-organtjes van patiënten met genetische ziekten

2019                                      Metakids / PNOzorg: Elk kind moet kunnen sporten, ook kinderen met een ziekte in de vetafbraak

2018                                      Klokhuis wetenschapsprijs (nomination, 2e prize)

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

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

2016                                      Metakids Research Funding / Vriendenloterij: Naar een nieuw onderzoeksmodel voor stofwisselingsziekten

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

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

2015                                      Stofwisselkracht: Liver stem cells for treatment of metabolic diseases               

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

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

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

2013                                      ESN stimulating prize: for innovative research into inherited liver diseases

2013                                      Metakids Research Funding: Lever stamcel transplantatie – nieuwe behandelmogelijkheid voor metabole ziekten?

2013                                      Leading Ladies WKZ Fund

2011                                      ZonMW TAS: Regenerating Intestinal Tissue with Stem cells (RITS); since 2014 redirected towards liver stem cell research; main applicant S. Middendorp to S. Fuchs

2004      NWO (ZONMW)-AGIKO stipendium (920-03-345): de rol van D-serine in perinatale asfyxie; een nieuwe kandidaat voor farmacologische interventie?

Research Output (44)

NANS-CDG:Delineation of the Genetic, Biochemical, and Clinical Spectrum

den Hollander Bibiche, Rasing Anne, Post Merel A, Klein Willemijn M, Oud Machteld M, Brands Marion M, de Boer Lonneke, Engelke Udo F H, van Essen Peter, Fuchs Sabine A, Haaxma Charlotte A, Jensson Brynjar O, Kluijtmans Leo A J, Lengyel Anna, Lichtenbelt Klaske D, Østergaard Elsebet, Peters Gera, Salvarinova Ramona, Simon Marleen E H, Stefansson Kari, Thorarensen Ólafur, Ulmen Ulrike, Coene Karlien L M, Willemsen Michèl A, Lefeber Dirk J, van Karnebeek Clara D M Jun 2021, In: Frontiers in Neurology. 12 21 p.

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Molema F, Haijes H A, Janssen M C, Bosch A M, van Spronsen F J, Mulder M F, Verhoeven-Duif N M, Jans J J M, van der Ploeg A T, Wagenmakers M A, Rubio-Gozalbo M E, Brouwers M C G J, de Vries M C, Fuchs S, Langendonk J G, Rizopoulos D, van Hasselt P M, Williams M 25 Dec 2020, In: Clinical Nutrition. 40 , p. 3622-3630 9 p.

Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease

Verstegen Monique M A, Roos Floris J M, Burka Ksenia, Gehart Helmuth, Jager Myrthe, de Wolf Maaike, Bijvelds Marcel J C, de Jonge Hugo R, Ardisasmita Arif I, van Huizen Nick A, Roest Henk P, de Jonge Jeroen, Koch Michael, Pampaloni Francesco, Fuchs Sabine A, Schene Imre F, Luider Theo M, van der Doef Hubert P J, Bodewes Frank A J A, de Kleine Ruben H J, Spee Bart, Kremers Gert-Jan, Clevers Hans, IJzermans Jan N M, Cuppen Edwin, van der Laan Luc J W 14 Dec 2020, In: Scientific Reports. 10 , p. 1-16 16 p.

Prime editing for functional repair in patient-derived disease models

Schene Imre F, Joore Indi P, Oka Rurika, Mokry Michal, van Vugt Anke H M, van Boxtel Ruben, van der Doef Hubert P J, van der Laan Luc J W, Verstegen Monique M A, van Hasselt Peter M, Nieuwenhuis Edward E S, Fuchs Sabine A 1 Dec 2020, In: Nature Communications. 11

Ethical challenges for pediatric liver organoid transplantation

Schneemann Sarah A, Boers Sarah N, van Delden Johannes J M, Nieuwenhuis Edward E S, Fuchs Sabine A, Bredenoord Annelien L 15 Jul 2020, In: Science translational medicine. 12 , p. 1-3

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Kuper Willemijn F E, Oostendorp Marlies, van den Broek Brigitte T A, van Veghel Karin, Nonkes Lourens J P, Nieuwenhuis Edward E S, Fuchs Sabine A, Veenendaal Tineke, Klumperman Judith, Huisman Albert, Nierkens Stefan, van Hasselt Peter M Jul 2020, In: JIMD Reports. 54 , p. 87-97 11 p.

Long-Term Survival of Transplanted Autologous Canine Liver Organoids in a COMMD1-Deficient Dog Model of Metabolic Liver Disease

Kruitwagen Hedwig S, Oosterhoff Loes A, van Wolferen Monique E, Chen Chen, Nantasanti Assawarachan Sathidpak, Schneeberger Kerstin, Kummeling Anne, van Straten Giora, Akkerdaas Ies C, Vinke Christel R, van Steenbeek Frank G, van Bruggen Leonie W L, Wolfswinkel Jeannette, Grinwis Guy C M, Fuchs Sabine A, Gehart Helmuth, Geijsen Niels, Vries Robert G, Clevers Hans, Rothuizen Jan, Schotanus Baukje A, Penning Louis C, Spee Bart 11 Feb 2020, In: Cells. 9

Misdiagnosis of CTX due to propofol:the interference of total intravenous propofol anaesthesia with bile acid profiling

Claesen Joep LA, Koomen Erik, Schene Imre F, Jans Judith Jm, Mast Natalia, Pikuleva Irina A, van der Ham Maria, de Sain-van der Velden Monique Gm, Fuchs Sabine A 28 Jan 2020, In: Journal of Inherited Metabolic Disease. 43 , p. 843-851 9 p.

Mitochondrial Cardiomyopathy

Blank AC, Breur JMPJ, Fuchs S.A., Koop K, Baas AF 2020, p. 179-190

Correction:Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs Sabine A, Schene Imre F, Kok Gautam, Jansen Jurriaan M, Nikkels Peter G J, van Gassen Koen L I, Terheggen-Lagro Suzanne W J, van der Crabben Saskia N, Hoeks Sanne E, Niers Laetitia E M, Wolf Nicole I, de Vries Maaike C, Koolen David A, Houwen Roderick H J, Mulder Margot F, van Hasselt Peter M 2020, In: Genetics in Medicine. p. 1-1

All research output

Thank you for your review!

Has this information helped you?

Please tell us why, so that we can improve our website.

Working at UMC Utrecht





Practical maakt gebruik van cookies

Deze website maakt gebruik van cookies Deze website toont video’s van o.a. YouTube. Dergelijke partijen plaatsen cookies (third party cookies). Als u deze cookies niet wilt kunt u dat hier aangeven. Wij plaatsen zelf ook cookies om onze site te verbeteren.

Lees meer over het cookiebeleid

Akkoord Nee, liever niet