AKC Double Seminar: Gene doping in elite sports and its detectability by liquid biopsy

Professor Perikles Simon

August Krogh Club Double Seminar

14:30-15:25: Professor Perikles Simon: Gene doping in elite sports and its detectability by liquid biopsy.
15:25-15:35: Short break.
15:35-16:30: Professor Julie Gehl: Electroporation in cancer treatment: Electrochemotherapy, calcium electroporation and gene therapy.
16:30-17:30: Post seminar servings and socializing

Gene doping in elite sports and its detectability by liquid biopsy

v/ Professor Perikles Simon, Head of Division of Sports Medicine, Rehabilitation and Disease Prevention, Johannes Gutenberg-University, Mainz.

Abstract

Gene transfer technology could be used for boosting physical performance of athletes. Viral-vector mediated gene transfer has the highest potential to successfully manipulate specific performance traits. In a clinical context, somatic gene therapy trials with viral vectors have recently proven to be effective and could become even safer in combination with CRISPR. Such manipulations are detectable during the initial phase of viremia, but were believed to be undetectable after stable integration of transgenes into skeletal muscle cells.

During the past decade, we developed liquid biopsy approaches that are now able to precisely quantify single molecules specific for gene doping in blood samples several months following stable integration of the transgene into solid tissues. In basic research, such sensitive measurements have enabled us to unravel rapid increases of cell free DNA and micro-vesicles in a work-load related fashion during exercise. In a clinical context, further refined liquid biopsy approaches now enable us to monitor the concentrations of cancer-cell specific kRAS mutations in the blood of colorectal cancer patients during surgical resection or exercise testing. Liquid biopsy approaches may not be readily employed for detecting gene doping, but are valuable tools for improving clinical and performance diagnostics in sports medicine.

Suggested readings

Haller, N., Helmig, S., Taenny, P., Petry, J., Schmidt, S., Simon, P. (2018). Circulating, cell-free DNA as a marker for exercise load in intermittent sports. In PLoS One. 2018 Jan 25;13(1).

Neuberger, E. W., & Simon, P. (2017). Gene and Cell Doping: The New Frontier - Beyond Myth or Reality. In Acute Topics in Anti-Doping (Vol. 62, pp. 91-106). Karger Publishers.

Breitbach, S., Tug, S., & Simon, P. (2012). Circulating Cell-Free DNA. Sports Medicine, 42(7), 565-586.

Research profile

Perikles Simon is heading the Division of Sports Medicine, Rehabilitation and Disease Prevention at the Institute of Sports Science of the Johannes Gutenberg-University Mainz. The Division is providing health services to in and out patients of the nearby University Hospital as well as to athletes and to the local community. The broader research field is translational sports medicine with an upcoming focus on combining eHealth based prevention interventions with refined molecular performance diagnostics.

Suggested further reading

Ehlert, T., Tug, S., Brahmer, A., Neef, V., Heid, F., Werner, C., ... & Simon, P. (2017). Establishing PNB-qPCR for quantifying minimal ctDNA concentrations during tumour resection. Scientific Reports, 7(1), 8876.

Ulrich, R., Pope, H. G., Cléret, L., Petróczi, A., Nepusz, T., Schaffer, J., ... & Simon, P. (2017). Doping in two elite athletics competitions assessed by randomized-response surveys. Sports Medicine, 1-

Beiter, T., Zimmermann, M., Fragasso, A., Armeanu, S., Lauer, U. M., Bitzer, M., ... & Simon, P. (2008). Establishing a novel single-copy primer-internal intron-spanning PCR (spiPCR) procedure for the direct detection of gene doping. Exercise immunology review, 14, 73-85.

Dettweiler, U., & Simon, P. (2001). Points to consider for ethics committees in human gene therapy trials. Bioethics, 15(5‐6), 491-500.

Venue

Auditorium 1, August Krogh Building, Universitetsparken 13, DK-2100 Copenhagen

Registration

Participation is free, but please register here.

For PhD students

PhD students participating in August Krogh seminars receive 0,2 ECTS per seminar

Contact

Jonas Møller Kristensen, jmkristensen@nexs.ku.dk, phone +45 3533 4776

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