Accelerating diagnosis of inherited metabolic diseases
Inherited metabolic diseases are serious genetic disorders caused by missing or faulty enzymes that disrupt normal metabolism in the body. In this project, the company Synvenio teams up with leading academic hospitals Radboudumc, Amsterdam UMC, and Erasmus MC, together with molecular identification experts of HFML-FELIX, to develop a new platform that can identify unknown disease biomarkers. This public–private partnership aims to improve early diagnosis and treatment monitoring for patients with inherited metabolic diseases.
Inherited metabolic diseases often present in newborns and can lead to severe disability or even life-threatening complications if not detected early. Many countries, including most in Western Europe, already screen newborns using heel-prick blood tests. However, current screening only covers a limited number of diseases because many biological markers are still unknown or not fully understood. As a result, many patients remain undiagnosed or are diagnosed too late, reducing treatment options and quality of life. There is a strong need for better diagnostic tools that can expand early detection and improve health outcomes.
The project introduces a new, scalable biomarker identification platform that connects directly to existing screening workflows. Using advanced analytical technology that combines liquid chromatography and infrared spectroscopy-based molecular identification, the platform helps determine the exact structure of unknown biomarkers found in patient samples. Three major research hospitals will provide real clinical case studies, allowing the platform to be developed for real-world application.
The project will deliver a validated biomarker identification platform ready for wider use in research laboratories. It will enable the identification of new disease markers and improve understanding of disease mechanisms. In the long term, this will support earlier diagnosis, better monitoring, and improved treatment options for patients with inherited metabolic diseases worldwide.
