Multiomics for Disease Diagnostics
Prokisch LabOur Mission
We are an interdisciplinary group of researchers exploring various multiomic approaches to investigate how the genome contributes to diseases. We develop new computational methods for patient diagnosis, treatment and data management. Our group’s core competencies include medicine, molecular biology and data science. We study both rare and complex diseases on a molecular/genetic level. In doing so, we aim to either provide a genetic diagnosis or gain more knowledge about the pathomechanism of the disease. We collaborate with researchers around the globe in hopes of fostering international exchange and bringing new advancements in science to the healthcare sector.
About our research
Vertical Tabs
With diagnostic rates of around 50% from DNA sequencing alone, half of the Mendelian disease patients remain without a molecular diagnosis. To provide different points of view on the problem of identification of disease-causing variation we apply multiple OMICs technologies, develop computational methods for data analysis and establish guidelines for clinical interpretation. Our group, in collaboration with Gagneur lab in TUM, pioneered the clinical application of RNA-sequencing for rare disease diagnostics and developed multiple machine-learning methods and analysis pipelines so it’s now integrated into routine clinical practice in multiple centers worldwide. We are constantly expanding our multi-omics portfolio with technologies like proteomics, metabolomics, digital phenomics, and methylation profiling and establish new methods for multi-layered data integration and analysis automation.
Rapid clinical testing, disease progression monitoring, and treatment response analysis are essential parts of patient care management and novel therapy development. We are focussing on the identification of novel biomarkers and the development of specific signatures in the metabolomics, lipidomics, and epigenetics data from Mitochondrial disease patients and animal models. Within german (mitoNET) and global (GENOMIT) networks for Mitochondrial diseases, we established the global patient registry and the largest biobank for MDs.
DigiMed Bayern is a flagship project that started in2018. It is funded by the Bavarian State Ministry of Health and Care (StMGP) as part of the BAYERN DIGITAL II master plan. The goal of Digimed is to integrate P4 medicine (predictive, preventive, personalised & participatory). Our group is involved in analysing Omics measurements from patients of complex diseases such as Cardiovascular disorders and Familial Hypercholesterolimia.
With diagnostic rates of around 50% from DNA sequencing alone, half of the Mendelian disease patients remain without a molecular diagnosis. To provide different points of view on the problem of identification of disease-causing variation we apply multiple OMICs technologies, develop computational methods for data analysis and establish guidelines for clinical interpretation. Our group, in collaboration with Gagneur lab in TUM, pioneered the clinical application of RNA-sequencing for rare disease diagnostics and developed multiple machine-learning methods and analysis pipelines so it’s now integrated into routine clinical practice in multiple centers worldwide. We are constantly expanding our multi-omics portfolio with technologies like proteomics, metabolomics, digital phenomics, and methylation profiling and establish new methods for multi-layered data integration and analysis automation.
Rapid clinical testing, disease progression monitoring, and treatment response analysis are essential parts of patient care management and novel therapy development. We are focussing on the identification of novel biomarkers and the development of specific signatures in the metabolomics, lipidomics, and epigenetics data from Mitochondrial disease patients and animal models. Within german (mitoNET) and global (GENOMIT) networks for Mitochondrial diseases, we established the global patient registry and the largest biobank for MDs.
DigiMed Bayern is a flagship project that started in2018. It is funded by the Bavarian State Ministry of Health and Care (StMGP) as part of the BAYERN DIGITAL II master plan. The goal of Digimed is to integrate P4 medicine (predictive, preventive, personalised & participatory). Our group is involved in analysing Omics measurements from patients of complex diseases such as Cardiovascular disorders and Familial Hypercholesterolimia.
Scientists at
