Project Lysosphingolipids – Analysis of Lyso-Spingolipids for the Screening of Lysosomal Storage Disorders

Basic data

Acronym:
Lysosphingolipids
Title:
Analysis of Lyso-Spingolipids for the Screening of Lysosomal Storage Disorders
Duration:
01/11/2015 to 31/10/2017
Abstract / short description:
We aim at the pathology of lipid metabolism in human diseases. This includes pathomechanisms, screening parameters and therapeutic concepts. Here we want to establish techniques of lysosphingolipid quantitation for the screening of lysosomal storage disorders, particularly Niemann Pick Type C. Our concept comprizes optimization of sample processing and quantitation of lyso-sphingomyelin and other lysosphingolipids. These techniques will be used for the analysis of reference samples for method validation, followed by the screening of unknown samples to be provided. Samples positive in screening will be counter-checked by genetic analysis. After routine techniques are established we will proceed to quantify further metabolites to assess additional screening parameters. We will address analytical limitations by matrix effects of samples. During this project over two years the costs of development and targeted sample analyses will count for about 50% each. After method establishment, we will discuss the perspective for routine screening of lysosomal storage disorders, with basic financiation to maintain technical lab skill and a throughput of estimated 500 samples per year.
Keywords:
Niemann-Pick Typ C
Lyso-Spingolipide
Lipidomics
Tandem-Massenspektrometrie
Neuropädiatrie
Angeborene Stoffwechselerkrankungen

Involved staff

Managers

University Children’s Hospital - Department of Paediatrics
Hospitals and clinical institutes, Faculty of Medicine

Contact persons

Faculty of Medicine
University of Tübingen
Faculty of Medicine
University of Tübingen
Faculty of Medicine
University of Tübingen
Faculty of Medicine
University of Tübingen

Local organizational units

Paediatrics Department IV
University Children’s Hospital - Department of Paediatrics
Hospitals and clinical institutes, Faculty of Medicine

Funders

Freiburg im Breisgau, Baden-Württemberg, Germany
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