Profile photo Sabine Fuchs

Sabine Fuchs

Full Professor


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 (including the ERC Starting Grant), prestigious prizes (including the Elisabeth von Freyburg penning (2016), 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 to improve care for patients with rare genetic/metabolic diseases. 


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.

Recent publications

Long-term monitoring of fatty acid oxidation defects Marit Schwantje, Sarah C Grünert, Sabine A Fuchs
Orphanet Journal of Rare Diseases, 2024, vol. 19
Misidentification of neural cell identity in liver-derived organoid systems Imre F Schene, Arif I Ardisasmita, Sabine A Fuchs
Stem Cell Reports, 2024, vol. 19, p.315-316
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders Marit Schwantje, Signe Mosegaard, Suzan J G Knottnerus, Jan Bert van Klinken, Ronald J Wanders, Henk van Lenthe, Jill Hermans, Lodewijk IJlst, Simone W Denis, Yorrick R J Jaspers, Sabine A Fuchs, Riekelt H Houtkooper, Sacha Ferdinandusse, Frédéric M Vaz
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2024, vol. 38
Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes Nils W F Meijer, Susan Zwakenberg, Johan Gerrits, Denise Westland, Arif I Ardisasmita, Sabine A Fuchs, Nanda M Verhoeven-Duif, Judith J M Jans, Fried J T Zwartkruis
Metabolites, 2024, vol. 14
Newborn screening for primary carnitine deficiency Loek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, Eugènie Dekkers, Sabine A Fuchs, Hidde Huidekoper, Mirian Janssen, Janneke Langendonk, Rose Maase, Monique de Sain, Estela Rubio, Francjan J van Spronsen, Frédéric Maxime Vaz, Rendelien Verschoof, Maaike de Vries, Frits Wijburg, Gepke Visser, Mirjam Langeveld
Journal of Medical Genetics, 2023, vol. 60, p.1177-1185
Next-generation Sequencing Performed in Patients Raising the Suspicion of an Inborn Error of Metabolism Uncovered a Homozygous Variant in Yars1 Allowing a Novel Therapeutic Trial Nadra Nasser Samra, Ilham Morani, Hino Bayan, Doua Bakry, Munia Shaalan, Hadi Saadi, Sara Beni Shrem, Alaa Sawaed, Gautam Kok, Irena J Muffels, Sabine A Fuchs, Mika Shapira-Rootman, Hagar Mor-Shaked, Hanna Mandel
Harefuah, 2023, vol. 162, p.344-351

Fellowships & Awards

2022: ERC Starting Grant

2022: Ammodo Science Award 2022

2021: NWA-ORC: NANOSPRESSO-NL: op maat gemaakte gepersonaliseerde geneesmiddelen versus grootschalige industriële productie van geneesmiddelen

2020: Metakids subsidie

2017: VriendenLoterij steunt Metakids met meer dan 700.000 euro!

2017: Open Technologieprogramma

2017: Metakids

2017: Steyn Parvé programma

2016: ERC proof of concept grant

2016: Elisabeth von Freyburg penning

2016: Metakids Research Funding

2015: Metakids Research Funding

2015: ZonMW Ethiek en Gezondheid

2015: MLDS Subsidie

2015: Stichting Stofwisselkracht

2014: Klinische Fellows ZonMW

2013: Metakids

2013: Lever stamcel transplantatie: nieuwe behandelmogelijkheid voor metabole ziekten?

2013: Treatment of patients with inborn errors of metabolism with liver stem cell transplantations

2013: ESN Stimuleringsprijs

2013: Leading Ladies WKZ fund

2011: ZonMW TAS

2004: NWO (ZonMW) - AGIKO stipendium