Radboud Scientists Discover New Biomarkers for Rare Epilepsy Using Infrared Laser
Scientists at Radboud University have made a groundbreaking discovery using an infrared laser at FELIX. They've identified new biomarkers for pyridoxine-dependent epilepsy (PDE), a rare metabolic disorder that can cause severe developmental issues. This is the first time an infrared free electron laser has been combined with clinical experiments for such a purpose.
The research team, led by prominent scientists in the field, utilised a combination of metabolomics and the infrared laser at FELIX. This innovative approach overcame previous challenges in biomarker discovery for metabolic diseases. The new method has provided fundamental insights into PDE, potentially paving the way for optimised treatment and prevention of cognitive disability.
The discovery of these biomarkers could significantly enhance worldwide newborn screening protocols. Currently, these protocols detect only 2% of over a thousand known inborn metabolic diseases. Early screening is crucial for optimal treatment, as it allows for the detection of unique biomarkers in the blood. The team is now actively applying their method to other diseases lacking biomarkers.
The successful identification of new biomarkers for PDE marks a significant step forward in the fight against this debilitating condition. The collaboration between clinical laboratories and the FELIX Laboratory at Radboud University has shown great promise, with the potential to revolutionise newborn screening and treatment for metabolic diseases. Further research is underway to expand the application of this groundbreaking method.
