Research projects
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.
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BioTyrosin - Biomarker for Tyrosinemia type 1 disease
Hereditary Tyrosinemia type 1 (HT-1) is a rare genetic disorder in which the newborn child lacks the ability to break down the amino acid tyrosine. As a result of this deficiency, toxic substances build up in the blood and can cause liver failure, kidney dysfunction and neurological problems. The…
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BioMannosido - Biomarker for Alpha-mannosidosis disease
Alpha-mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an…
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TRAM - Screening for Hereditary Transthyretin Related Amyloidosis
Transthyretin (TTR) amyloidosis (A-TTR) is a rare protein misfolding, autosomal dominant inherited disease with variable penetrance. It presents with a wide spectrum of clinical manifestations.
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BioHFS - Biomarker for hyaline fibromatosis syndrome
Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other…
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BioHoFH - Biomarker for homozygous familial hypercholesterolemia
Homozygous familial hypercholesterolemia (HoFH) is a rare hereditary disorder of lipoprotein metabolism characterized by exceptionally high levels of low-density lipoprotein cholesterol (LDL-C). The goal of this study is to identify and validate a new biochemical marker from the plasma of affected…
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BioHAE - Biomarker for hereditary angioedema disease type 1
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway.…
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BioTRAP - Biomarker for patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy
Diseases of diverse etiology can be correlated to the term "polyneuropathy"(PNP). The pathogenesis may be of inflammatory, autoimmune, metabolic, toxic or hereditary nature.
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BioDuchenne - Biomarker for Duchenne disease
Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to…