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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BioGilbert – Biomarker for Patients with Gilbert Disease
Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis).
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BioCyFi – Biomarker for Patients with a Cystic Fibrosis Disease
Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The feature of the disorder…
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BioAlport – Biomarker for Alport Disease
Alport Syndrome is an inherited disease that primarily affects the glomeruli, the tiny tufts of capillaries in the kidneys that filter wastes from the blood. The disease was first described by an English doctor named A. Cecil Alport.
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BioHypophos – Biomarker for Hypophosphatasia Disease
Hypophosphatasia (HPP) is a rare genetic disorder characterized the abnormal devel-opment of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper…
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BioGlycogen – Biomarker for Glycogen Storage Diseases
Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. People with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues.
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LYSO-PROOF – Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Gaucher disease is an autosomal recessive inherited lysosomal storage disorder. The disease is caused by the hereditary deficiency of the glucocerebrosidase, a lysosomal enzyme that breaks down glucocerebroside into glucose and ceramide. Gaucher disease is the most common sphingolipidosis and it is…
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TuScCom – Biomarker for Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures,…
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BioWolman – Biomarker for Wolman Disease
Wolman disease is a rare genetic disorder characterized by the complete absence of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is required to breakdown (metabolize) lipids in the body. Without the LIPA enzyme, lipids may abnormally accumulate in the tissues and organs of the…
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BioSly – Biomarker for Sly Disease
Mucopolysaccharidosis type VII (also known as Sly syndrome) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. The goal of the study is to validate this new biochemical marker for Sly disease from the plasma of the affected patients, helping to benefit other patients by an…
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BioML – Biomarker for Mucolipidosis Disorder Type I, II, II or IV
Mucolipidoses (ML) are a group of inherited metabolic diseases in which both glycosaminoglycans (GAGs) and another group of substances called sphingolipids build up in the body. The goal of this study is to develop new biochemical markers from the plasma of affected patients, helping to benefit the…