Scientific Publications
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Testing of Novel Treatment Options for Niemann-Pick Disease
The search for causative treatments continues to be a leading challenge in rare disease research. Using varying models, researchers recently investigated the potential effects of a novel candidate […]
Clinical Expertise in Genetic Disorders
The fact that many lysosomal storage disorders may have a neurological component is incompletely understood. Clinical studies on this topic therefore require clear definitions of eligible patient […]
Personalizing Therapeutic Decisions in Fabry Disease
More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel […]
Generation of iPSCs for Rare Diseases
Induced pluripotent stem cells (iPSCs) represent excellent in vitro models to study rare diseases and perform high-throughput drug screening. CENTOGENE has established iPSC technology for rare […]
Moving Towards New Therapies for Fabry Disease
Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with […]
Diagnostic Utility of Biomarkers
Classification of genomic variants in a disease context is a highly formalized process, which benefits from diverse types of information. At CENTOGENE, this routinely involves the quantification of […]
Novel Insights into a Rare Disorder
A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly […]
A controversy in Parkinsonism research
Parkinson disease (PD) can be associated with mutations that are usually found in patients with Gaucher disease (GD). Treatment options for GD are therefore considered also for PD, but there are […]
A new biomarker function for a long-known hormone
Adiponectin is a hormone with well-known relevance to cardiac and renal function. As Fabry disease (FD), a rare metabolic disorder, often manifests with cardiac and/or renal symptoms, researchers at […]