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

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.
This webinar took place on February 12th 2020

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Overview

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 topics

  • 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.

 

Important Note: The methods and solutions discussed during the webinar are for research use only and not for use in clinical diagnostic procedures

Who should attend?

Researchers in the field of metabolomics, family doctors and pediatricians, policymakers involved in preventive public health programs, and parents in general.

Important note: The methods and solutions discussed during the webinar are for research use only and not for use in clinical diagnostic procedures

Speaker

Dr. Oscar Millet
Dr. Oscar Millet
Principal Investigator CIC bioGUNE
Dr. Oscar Millet is the group leader of the Precision Medicine and Metabolism group of the CIC bioGUNE. His research focuses on the use of nuclear magnetic resonance (NMR) in the study of biologically relevant proteins and enzymes, paying special attention to the metabolic information that can be extracted from biological samples such as serum and urine. He has been awarded the Real Sociedad Española de Química prize (2004), the Spanish NMR group prize (2005), and the Innovation Award of the Basque Government (2018). He is the scientific founder of the spin-off Atlas Molecular Pharma and is the president of the Spanish Chemical Biology Group.