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Revolutionary Method Detects Newborn Diseases: PDE Screening Begins

New biomarkers for PDE mean newborns can now be screened for this severe, previously undetectable disease. This breakthrough paves the way for improved screening and treatment of other diseases.

In the image there is a baby laying under baby cradle, on the left side there is a caution sticker...
In the image there is a baby laying under baby cradle, on the left side there is a caution sticker on it.

Revolutionary Method Detects Newborn Diseases: PDE Screening Begins

A groundbreaking method has been developed to identify biomarkers for previously undetectable diseases, starting with pyridoxine-dependent epilepsy (PDE). This discovery could revolutionize newborn screening and treatment.

Currently, only 2% of over a thousand known inborn metabolic diseases (IMD) can be detected through newborn screening. In the Netherlands alone, an IMD-affected child is born every other day, highlighting the urgent need for improved screening.

Researchers at Radboud University Medical Center and the FELIX laser laboratory have identified new biomarkers for PDE. These biomarkers can be detected through the routine neonatal heel prick, expanding screening capabilities. The method combines advanced analytical instrumentation with the FELIX laboratory's infrared laser, enabling biomarker identification.

PDE is characterized by intractable seizures and developmental delays, even with vitamin B6 treatment. The newly discovered biomarkers could lead to optimized treatment. The method is also being applied to other diseases lacking biomarkers, such as cancer, neurodegenerative disorders, cardiovascular diseases, and infectious diseases.

Newborn screening for PDE has begun, thanks to the discovery of new biomarkers. This marks a significant step forward in detecting and treating IMDs. Researchers are now applying this method to other diseases, potentially revolutionizing healthcare and improving the lives of countless individuals.

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