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.

2022                                    Member of jury Prijs voor de Jonge Onderzoeker (NVK)

2022 - now                         Scientific board member of the Tjallingh Roorda Foundation

2021 - now                          Selection member of the TULIPS – Auxilium & Caritas Award

2021                                     Informative talk with Ultragenyx about trial for patients with long chain fatty acid oxidation disorder (no payment)

2020 - now                          Remote reviewer for ERC advanced grant 2020

2020 – now                          Member of the Strategic Team of the EUREKA Certificate Program for Translational Medicine, Siracusa, Italië (http://eurekainstitute.org/)

2020 - now                          Member of the UMC Utrecht Open Science-Team

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 (http://eurekainstitute.org/)

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

2018-2019                           Selected member of the UMCU Elisabeth Steyn Parvé Female Talent Program.

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

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

2012 - now                          Member of SSIEM (Society for the Study of Inborn Errors of Metabolism

2012 - now                           Member of NVK (Nederlandse Vereniging voor Kinderartsen)

2012 - now                          Member of ESN (Erfelijke Stofwisselingsziekten Nederland)

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

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?