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Urinary NMR diagnostics for inborn errors of metabolism using rule-based interpretation (for research use only)

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Join this webinar to learn about the potential of computer-assisted interpretation and linking disease markers identified by NMR to the metagene database

5 Oct 2020
Diane Li
Assistant Editor

Expert insights

Dr. Georg Frauendienst-Egger and Prof. Dr. med. Friedrich Trefz

Inborn errors of metabolism are rare diseases that often provide a typical pattern of elevated metabolites in biological fluids like urine, blood (plasma or serum) or cerebrospinal fluid. More than 1,000 different diseases are known. Because of the different chemical classes of those metabolites, the most commonly used methods are gas chromatography-mass spectrometry (GC/MS), liquid chromatography-mass spectrometry (LC/MS) and other chromatographic methods. However, by using NMR analysis, which is a highly reproducible and quantitative method, it is possible to quantify simultaneously metabolites from a wide range of different substance classes such as organic acids, amino acids, purines and pyrimidines, and other small molecules.

In this upcoming SelectScience webinar, Prof. Dr. med. Friedrich Trefz, Senior Medical Consultant for Bruker BioSpin, and Dr. Georg Frauendienst-Egger, Senior Medical Consultant Neonatology at the Clinical Center Reutlingen, will demonstrate the potential of computer-assisted interpretation and linking disease markers identified by NMR to the metagene database. The automatic generation of a list of potential diagnoses using a rule-based informatics approach will be shown.

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Key learning objectives:

  • How to generate an NMR quantitative report on the basis of 150 metabolites
  • How to link this report to the metagene database
  • How clinical and general laboratory findings can be included and enhance the diagnostic power
  • How the method can be used to automatically get proposals for a patient’s disease
  • The value of a patient’s diagnosis repository for documentation and training

Who should attend?

  • Scientists and clinicians involved in the diagnosis and treatment of patients with inborn errors
  • Scientists and laboratory professionals interested in new NMR-based metabolomics applications

Find out more on this topic by registering to watch the full webinar>>

SelectScience runs 10+ webinars a month across various scientific topics, discover more of our upcoming webinars>>

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NMR and EPR SpectroscopyNuclear magnetic resonance (NMR) spectroscopy is used to resolve the local chemical environment of atomic nuclei with spin, revealing information on molecular structure, dynamic processes and chemical reactions of organic molecules, from proteins to synthetics. Electron paramagnetic resonance (EPR) also known as electron spin resonance (ESR) spectroscopy is used to detect and quantify paramagnetic species in a sample, including free radicals as transition metal ions. By immersing the sample in a strong magnetic field, both NMR and EPR spectrometers probe the sample with either radio waves or microwaves respectively. A range of benchtop, solid-state and time domain NMR spectrometers & EPR spectrometers are available, as well as NMR tubes, NMR solvents, software, coils, and magnets. Find the best NMR & EPR equipment in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Data AnalysisData analysis hardware and software is available to make data processing straight-forward yet powerful. Data software can be used for math and stats, technical graphing and image analysis. In addition, software is available for specific data analysis of electrophoresis, densitometry, ELISA and DNA sequencing.Chem / BioinformaticsCheminformatics and bioinformatics are computational techniques used in chemistry and biology, respectively, for data acquisition, processing and storage. Cheminformatics focuses on compound information, whereas bioinformatics is mainly applied to analysis and modeling of genomics, genetic and sequencing information. Hardware and software is available for data acquisition, analysis, management and storage.Drug MetabolismDrug metabolism is the enzymatic conversion within the body of pharmaceutical substances into other chemical compounds. The primary site for drug metabolism is the liver.Molecular DiagnosticsMolecular diagnostics use an individual’s genetic code and gene expression to diagnose and monitor diseases. The technique is used increasingly in the field of infectious diseases and oncology, as well as areas such as coagulation, HLA typing and pharmacogenomics. Molecular diagnostics plays a pivotal role in personalized medicine.Data AnalysisThe analysis of data is the process of transforming, modeling and evaluating data to discover useful information from experimental results. Data ManagementMetabolomicsMetabolomics is the study of small metabolites (the intermediates and products of metabolism). It involves the identification and quantification of cellular metabolites using analytical technologies such as GC, HPLC, NMR, and LC/MS.LC-MSLiquid Chromatography-Mass Spectrometry (LCMS) is a powerful analytical technique that combines the separation power of liquid chromatography with the detection capabilities of mass spectrometry. It is widely used for qualitative and quantitative analysis of complex mixtures in pharmaceuticals, proteomics, and environmental studies. Browse our peer-reviewed product directory to find the best LCMS systems, compare products, check reviews, and get pricing directly from manufacturers.UrineThe analysis of urine is important in medicinal, anti-doping, forensic and life sciences applications. The ability to evaluate what someone has ingested through their urine enables fast detection and diagnosis of certain illnesses.

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