20 years of work on exosomal DNA fragments

Dr. Christoph W. Sensen

Hungarian Center of Excellence for Molecular Medicine, HCEMM Kft, Szeged, Hungary

christoph.sensen [at] hcemm.eu

Abstract

In the year 1948, French authors Mandel and Metais first described the presence of cell-free DNA molecules (cfDNA) in the blood of mammals and also made a link of the quantities of this DNA fraction to various diseases. Until the advent of high-throughput DNA sequencing, this finding was mostly ignored, but since then, work on cfDNA has increased.

The Sensen laboratory has performed several studies on the DNA molecules present in plasma or serum, respectively, mostly using data obtained from paired-end high-throughput Illumina sequencing experiments, followed by Bioinformatics analysis and ultimately qPCR. This includes studies on Chronic Wasting disease in Canadian Wapitis, work on Mad Cow Disease, radiation experiments with non-lethal doses in rats as well as work on human disease conditions.

The work of more than 20 years in Canada, Austria and Hungary will be reviewed, which has ultimately led to the development of a qPCR test, which can be used to detect the onset of human sepsis up to two days before the first clinical signs. A special focus of this talk will be on the close interconnection between the medical and laboratory work and the Bioinformatics analyses, which are required for the development of a new molecular diagnostic assay, which can be performed with standard equipment already available in the clinics using non-invasive methods.

The presentation will end with an outlook on the work that is currently ongoing at the Hungarian Center for Molecular Medicine in Szeged, which is focused on the stratification of COVID-19 patients.

Keywords: Bioinformatics, data mining, nucleic acids, sequencing, molecular diagnostics

Acknowledgement: The HCEMM program is funded in by EU Horizon 2020 Grant No. 739593, NRDIO Hungary National Laboratory award Project no. TKP-2021-EGA-05 and NRDIO Hungary Thematic Excellence award, Project no. 2022-2.1.1-NL-2022-00005.