Advancing non-invasive detection of doping via in vivo genome editing

Code: 242E03KC

Gene doping, which is banned by WADA, is the alteration of an athlete’s DNA in order to obtain athletic advantage. Rapid advances in genome editing technologies pose a significant future threat to fair competition and athlete safety. This project aims to address this challenge by focusing on detecting performance-enhancing genome modifications.

This research will begin with animal models to study how effectively genome editing can be achieved in tissues relevant for doping and then be detected non-invasively. From there, the research will work towards developing accurate, affordable, and scalable methods to detect genome editing in humans in the context of performance enhancement.

The project consists of three main objectives:

1. Animal studies. Using state-of-the-art genomic technologies, we will perform genome editing experiments in mice. This will help us assess the efficiency of genome editing across different tissues and identify non-invasive detection methods.
2. Human genome editing detection assay. We will create a targeted deep sequencing tool to detect edits in 20-30 human genes linked to doping. We will develop software to differentiate genuine edits from experimental errors and naturally occurring variations.
3. Validation. We will validate the assay by applying it to lab-edited primary human hematopoietic stem cells and employing a blinded computational analysis to identify genome editing events.

This pioneering research will provide crucial insights into how new genomic technologies could be used in doping and on the factors that affect editing detectability. Our goal is to create novel, cost-effective methods for detecting genome editing in humans, supporting anti-doping efforts worldwide.