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As of August 2025, the Radboudumc has joined national research institute HFML-FELIX as an official partner. The aim of the partnership is to accelerate innovation in the field of metabolite identification, improving biomarker discovery and paving the way for novel techniques for the diagnostics and treatments of rare diseases.
The partnership builds on a strong foundation established over the past years. Together, the two research facilities have already investigated more than 20 inherited metabolic disorders and identified over 10 novel biomarkers, with results published in more than 15 peer-reviewed studies. Examples include biomarkers for phenylketonuria, pyridoxin-dependent epilepsy, and GLUT1 deficiency syndrome.
The new partnership will push the possibilities even further. The combined expertise of both facilities will enable important innovations in the field of molecular structure identification. The Translational Metabolic Laboratory at the Radboudumc department of Human Genetics has developed mass spectrometry-based metabolomics for diagnostics of rare metabolic diseases. HFML-FELIX brings unique analytical capabilities, including infrared ion spectroscopy and several state-of-the-art mass spectrometry technologies for metabolite identification.
New research opportunities
Looking ahead, Radboudumc will provide dedicated scientific and technical staff to HFML-FELIX, ensuring long-term integration of clinical and analytical expertise. The partnership also creates new research opportunities through NWO investment calls, PhD programs, and joint grant applications.
At the national level, this collaboration will strengthen existing research networks such as United for Metabolic Diseases (UMD) and Metakids and is strategically positioned to establish Nijmegen as a leading (inter)national hub for biomarker discovery in inherited metabolic disease research.
