CENTOGENE embraces the vision of patient engagement in healthcare decisions, as we move further into the era of personalized medicine.
Together with renowned international scientists and academic institutions, e.g. Universities of Rostock, Lübeck, Greifswald, we conduct several epidemiological studies with global partners.
These joint projects involve hundreds of patients affected with disorders such as Fabry, Pompe, Krabbe, various forms of mucopolysacharoidoses and others. International collaborations yield a rich collection of genetic and biochemical data which are used to map out phenotype-genotype correlations and improve the accuracy of diagnostics and prognostics.
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
Therefore it is the goal of the study to identify and validate a new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
We estimate, that every 300th newborn in some countries may be eligible for inclusion due to high-grade suspicion of NPC. The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.
The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.