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May 20 2025
3In the 1990s, physiologist Lee Sweeney demonstrated a groundbreaking experiment at the University of Pennsylvania: by introducing a gene encoding insulin-like growth factor 1 (IGF-1) into the muscle cells of mice, he triggered a significant increase in their muscle mass and strength. The results drew immediate interest from athletes eager to replicate the effect, despite the experimental nature and potential risks.
“I was shocked that they would want to basically be a guinea pig for something that could do them harm rather than do them good,” said Sweeney, now based at the University of Florida. “Even when I would explain it to them, they said they didn't care.”
Recognizing the potential for misuse, the World Anti-Doping Agency (WADA) officially prohibited gene doping in 2003. WADA defines gene doping as the non-therapeutic use of genetic material—often introduced into muscle tissue—to enhance athletic performance. Unlike traditional doping with drugs or hormones, gene doping enables the body to produce these substances internally, making detection more difficult.
Gene doping methods include inserting foreign genes that enhance performance, silencing genes that hinder it, or using gene-editing techniques for precise modifications. While gene silencing and editing pose safety and reliability challenges, detection efforts have focused largely on identifying foreign, or exogenous, genes using PCR and sequencing-based techniques.
Although Sweeney has not personally encountered athletes actively engaging in gene doping, he noted that WADA has documented attempts. He also confirmed its presence in the horse racing industry, where some animals have tested positive and been disqualified.
Edward Ryder, an animal geneticist at biotechnology firm LGC, echoed these concerns. “Horses cannot advocate for themselves and refuse treatment,” he said, underscoring the ethical dimension of gene doping in animals. Ryder collaborates with the British Horseracing Authority to detect signs of genetic manipulation and noted the increasing feasibility of gene editing, including at the germline level. Recently, researchers even reported the birth of gene-edited horses engineered for superior performance.
Muscle biopsies remain the most direct method for detecting gene doping in both humans and animals. However, because of their invasiveness, researchers have turned to analyzing blood samples for DNA fragments released during post-exercise muscle breakdown. These fragments can serve as indicators of transgenes.
“We've created a panel of candidate genes that we believe are targets,” said Ryder. These include IGF1, growth hormones, and erythropoietin, a molecule known to boost red blood cell production and endurance. PCR methods can identify transgene-specific DNA by targeting exon-exon junctions, which do not occur in the body’s native DNA, thus reducing false positives.
While highly accurate, PCR is limited in scope, detecting only a few genes per test. Moreover, dopers can modify transgene designs to avoid detection. To counter this, Ryder’s team and other researchers have developed next-generation sequencing (NGS) assays, capable of scanning for a broader range of genetic material with high sensitivity.
Though the field is still emerging, Ryder hopes the availability of these technologies will act as a deterrent—especially for the welfare of animals. “If it's known that we're testing for these events, then hopefully that will deter people from doing this in the first place,” he said.
Sweeney remains more skeptical. “I would hope that the possibility of being detected would discourage people,” he said. “But from my old conversations with athletes, it is not clear [that] anything discourages them.”
Source:https://www.the-scientist.com/what-is-gene-doping-in-sports-and-how-can-experts-detect-it-73016
This is non-financial/medical advice and made using AI so could be wrong.
