Sabine A. Fuchs

Sabine A. Fuchs is a Full Professor and pediatrician specializing in metabolic diseases at Utrecht University Medical Center (UMC-Utrecht), holding a Principal Investigator position at the Hubrecht Institute's Regenerative Medicine and Stem Cell Research group (RMCU). Her dual clinical-research role bridges patient care with translational science in pediatric genetic disorders.

Her academic journey includes cum laude degrees in Pharmacy and Medicine from Utrecht University, supplemented by research in Edinburgh (Prof. Webb) and clinical training at Harvard Medical School. She completed pediatric specialization alongside a ZonMW AGIKO-funded PhD in metabolic diseases, later establishing her independent research line through a ZonMW Klinische Fellows grant.

Dr. Fuchs' research centers on metabolic and genetic diseases in children, with emphasis on mitochondrial disorders and inborn errors of metabolism. She pioneers mRNA-based therapeutics, in vivo gene correction, and mitochondrial function restoration, developing innovative platforms like liver organoids for disease modeling. Her work integrates clinical insights with molecular diagnostics to address unmet therapeutic needs.

Recent publications reveal strong trends in mRNA delivery systems for genetic diseases, aminoacyl-tRNA synthetase deficiency treatments, and advanced cellular screening for variant interpretation. Her group's work on mitochondrial phenotyping and amino acid metabolism demonstrates a multidisciplinary approach spanning nanomedicine, stem cell biology, and metabolic engineering.

Her 2024 awards include:

• €200,000 Biotech Booster grant for HeLLO
• €150,000 ERC Proof of Concept grant for IMPACT
• €1.5 million ZonMW VICI grant for in vivo gene correction
• €15,000 Tjallingh Roorda Stichting grant for mitochondrial disease therapies

Dr. Fuchs supervises PhD candidates through grants like the Tjallingh Roorda project and leads collaborative research funded by ZonMW, ERC, and Dutch foundations. Her grants portfolio exceeds €2 million in 2024, supporting translational pipelines from basic discovery to clinical application.

She directs a research team within the RMCU at the Hubrecht Institute, collaborating with UMC-Utrecht clinicians and international partners to advance regenerative medicine approaches for childhood metabolic disorders through stem cell models and gene editing technologies.