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Scientific Programs

CENTOGENE’s research activities drive biomarker development in patient-derived biomaterials and foster the understanding of genotype-phenotype correlations in rare diseases using state-of-the art laboratory and information technology.

  1. Scientific Programs

iPSC-based Drug and Biomarker Discovery Platform

CENTOGENE has built a cutting-edge iPSC platform to implement the concept of “study in a dish” for rare genetic diseases. Our expertise and knowledge in the rare genetic disease field gives us a unique and privileged access to hundreds of patients’ materials to generate disease-specific iPSC lines.

With this iPSC platform, we are prepared to perform high-throughput iPSC-based drug screening and develop new biomarkers as a readout for compound screening. 


To achieve these goals, CENTOGENE has recently established partnerships with Censo Biotechnologies (Edinburgh, UK) and Evotec AG (Hamburg, GER). Furthermore, we are seeking to establish new partnerships with industry and academia to foster our strength in iPSC field.

Our Process at CENTOGENE

Optimizing the diagnostic utility of novel technological platforms

Genetic diagnosis of inherited disorders has greatly benefitted from recent technological progress. The resulting advancements, however, have added new levels of understanding of identification and proper interpretation of genetic variants. Based on its vital interest as a global leader in rare disease genetics, CENTOGENE strives to be at the forefront in resolving related issues. Significant research efforts are therefore devoted to fostering the diagnostic utility of available state-of-the-art platforms. In a recent pertinent study, for example, CENTOGENE developed a workflow that optimizes sensitivity and specificity of whole exome sequencing-based diagnostic approaches (Bauer et al., Genet Med, in press). Additional studies that address problems related to systematic variant reclassification, robust detection of copy number aberrations, and routine implementation of whole genome sequencing are ongoing.

Peptide-based immunization strategies for treatment of colon or pancreatic cancer (PiCoP)

Developing innovative diagnostic tools is a major focus of CENTOGENE. Beginning 2018, we have started a comprehensive research infrastructure to develop personalized, immune-based therapies for pancreatic cancer and for metastasizing colon cancer. To that end, CENTOGENE is combining expertise in next-generation-sequencing, biomarker development and bioinformatics developing a platform to predict therapeutic targets in neoepitope-based immunotherapy. With partners from industry and academia, we are committed to establish a workflow with fast turnaround times from patient samples for the identification of tumor-specific neo-antigens as basis for therapy. For critically ill patients, these new therapies mean enhanced chances of survival through an improved immune response towards their individual tumors.

Towards completing our understanding of the genetic basis for rare phenotypes

Defining the clinical consequences of genomic variants is a major goal of human genetics. CENTOGENE actively utilizes its unique resources for advancing the knowledge in this field. Numerous projects initiated by CENTOGENE researchers aim at describing novel disease genes, or at extending the clinical and mutational spectra for already known rare genetic disorders. CENTOGENE is very active for collaborations with external scientists and clinicians. Our proprietary database CentoMD® has proven to be an excellent platform for a successful accomplishment of diverse kinds of clinical-genetic research efforts. Resulting studies meet highest scientific standards, and are being published in the most prestigious scholarly journals (e.g. Bertoli-Avella et al., 2018, Eur J Hum Genet 26:592; Baldi et al., 2018, Clin Genet 93:1087; Platzer et al., 2017, J Med Genet 54:460).

Identification of genetic risk factors and biomarkers as indicators of pancreatitis and liver diseases

Pancreatitis is an inflammatory disease of the pancreas. Recurring, chronic pancreatitis can lead to the accumulation of connective tissue (fibrosis) and pancreatic cancer. Fatty Liver diseases are characterized by the accumulation of fat within the tissue. They represent the most common chronic liver disease in the majority of the industrial countries and can similarly progress to fibrosis (liver cirrhosis) and liver cancer. CENTOGENE is developing diagnostic tools for the minimally-invasive identification and prediction of damage to the pancreas and the liver based on high-sensitive Tandem-Mass-Spectrometry.