NMR-based newborn screening for the detection of congenital metabolopathies [For research use only]

Available on demand

Many congenital metabolopathies can be properly treated upon diagnosis. However, the gold-standard diagnostic method is expensive and only covers a subset of possible diseases. This means that disease prevalence and the potential economic burden for the public health system are often limiting factors for screening.

In this expert webinar, Oscar Millet, group leader of the Precision Medicine and Metabolism group of the CIC bioGUNE, will discuss an alternative method for newborn urine screening using NMR spectroscopy. This methodology promises the identification of an extended panel of diseases in a robust, efficient, and economically viable manner.

Key learning objectives:

• The protocol for extracting metabolic information from urine samples.
• The extended panel of congenital metabolopathies that can be investigated by NMR spectroscopy.
• The advantages and limitations of the NMR-based methodology.