The speaker has been invited by the FdSI e.V. as guest in the lecture series "Saarbücker Informatiker in der Praxis". He will also talk about his career to give students an impression about the demands of industry. (language: German)
Biomarkers play an essential role for many human diseases. In our research we focus on two synergistic novel biomarker strategies for improved disease detection and treatment towards a more personalized medicine in clinical applications.
For detecting diseases we developed a non-invasive test that relies on small non-coding RNAs, so-called miRNAs. We profiled about 1.000 miRNAs in over 1.000 samples in different body fluids for a variety of diseases, 454 of them with exactly the same protocol. The results of our multi-centric study provide evidence for highly specific disease profiles, 14 different disease could be separated from controls with accuracy rates between 81% and 100%. Even more, we were able to separate cancer and non-cancer diseases of the same organ.
To further elucidate the genetic background of patients we developed a high throughput next generation sequencing facility. Our approach first filters the relevant genetic information related to a diseases of a complex human genome. This information then is deciphered by a novel sequencer and genetic variations, causing the disease are detected by sophisticated computational biology approaches. Applying our highly efficient sequencing and analysis pipeline we carried out 4 clinically relevant studies with 100 samples, each. Examples include the breast cancer genes BRCA1 and BRCA2 that are screened for women with genetic breast cancer susceptibility, or a panel of genes, known to cause hear failures. Our results impressively demonstrate that so-called targeted enrichment is one method of choice for clinical sequencing applications and will affect the near future of disease detection.