Doudna JA. The promise and challenge of therapeutic genome editing. Nature. 2020;578:229–36.
Article CAS PubMed PubMed Central Google Scholar
Dunbar CE, High KA, Joung JK, Kohn DB, Ozawa K, Sadelain M. Gene therapy comes of age. Science. 2018;359:175.
Sun W, Wang H. Recent advances of genome editing and related technologies in China. Gene Ther. 2020;27:312–20.
Article CAS PubMed Google Scholar
Wong C. UK first to approve CRISPR treatment for diseases: what you need to know. Nature. 2023;623:676–7.
Article CAS PubMed Google Scholar
Reardon S. It’s a vote for hope’: first gene therapy for muscular dystrophy nears approval, but will it work?. Nature. 2023;618:451–3.
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, et al. AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial. Lancet. 2024;403:2317–25.
Article CAS PubMed Google Scholar
Musunuru K, Grandinette SA, Wang X, Hudson TR, Briseno K, Berry AM, et al. Patient-specific in vivo gene editing to treat a rare genetic disease. N Engl J Med. 2025;392:2235–43.
Article CAS PubMed Google Scholar
Filipp F. Is science killing sport? Gene therapy and its possible abuse in doping. Embo Rep. 2007;8:433–5.
Article CAS PubMed PubMed Central Google Scholar
Friedmann T, Rabin O, Frankel MS. Gene doping and sport. Science. 2010;327:647–8.
Article CAS PubMed Google Scholar
Pincock S. Gene doping. Lancet. 2005;366:S18–S9.
Li RH, Su PP, Shi Y, Shi H, Ding SQ, Su XB, et al. Gene doping detection in the era of genomics. Drug Test Anal. 2024;16:1468–78.
Article CAS PubMed Google Scholar
Lopez S, Meirelles J, Rayol V, Poralla G, Woldmar N, Fadel B, et al. Gene doping and genomic science in sports: where are we? Bioanalysis. 2020;12:801–11.
Article CAS PubMed Google Scholar
Gineviciene V, Utkus A, Pranckeviciene E, Semenova EA, Hall ECR, Ahmetov II. Perspectives in sports genomics. Biomedicines. 2022;10:298.
Article CAS PubMed PubMed Central Google Scholar
Baoutina A, Bhat S, Li DK, Emslie KR. Towards a robust test to detect gene doping for anabolic enhancement in human athletes. Drug Test Anal. 2023;15:314–23.
Article CAS PubMed Google Scholar
Yanazawa K, Sugasawa T, Aoki K, Nakano T, Kawakami Y, Takekoshi K. Development of a gene doping detection method to detect overexpressed human follistatin using an adenovirus vector in mice. PeerJ. 2021;9.e12285.
Article PubMed PubMed Central Google Scholar
Kaiser J. How safe is a popular gene therapy vector? Science. 2020;367:131.
Article CAS PubMed Google Scholar
Smalley E. FDA warns public of dangers of DIY gene therapy. Nat Biotechnol. 2018;36:119–20.
Article CAS PubMed Google Scholar
WADA. The Prohibited List. https://www.wada-ama.org/en/prohibited-list. 2025.
Naumann N, Paßreiter A, Thomas A, Krug O, Walpurgis K, Thevis M. Analysis of potential gene doping preparations for transgenic DNA in the context of sports drug testing programs. Int J Mol Sci. 2023;24:15835.
Article CAS PubMed PubMed Central Google Scholar
Puchalska M, Witkowska-Piłaszewicz O. Gene doping in horse racing and equine sports: current landscape and future perspectives. Equine Vet J. 2025;57:312–24.
Tozaki T, Hamilton NA. Control of gene doping in human and horse sports. Gene Ther. 2022;29:107–12.
Article CAS PubMed Google Scholar
Paßreiter A, Thomas A, Grogna N, Delahaut P, Thevis M. First steps toward uncovering gene doping with CRISPR/Cas by identifying SpCas9 in plasma via HPLC–HRMS/MS. Anal Chem. 2020;92:16322–8.
Zheng B, Yan J, Li T, Zhao Y, Xu Z, Rao R, et al. Hydrophilic/hydrophobic modified microchip for detecting multiple gene doping candidates using CRISPR-Cas12a and RPA. Biosens Bioelectron. 2024;263:116631.
Article CAS PubMed Google Scholar
Paßreiter A, Naumann N, Thomas A, Grogna N, Delahaut P, Thevis M. Detection of sgRNA via SHERLOCK as potential CRISPR related gene doping control strategy. Anal Chem. 2024;96:7452–9.
Sugasawa T, Aoki K, Yanazawa K, Takekoshi K. Detection of multiple transgene fragments in a mouse model of gene doping based on plasmid vector using TaqMan-qPCR assay. Genes. 2020;11:750.
Article CAS PubMed PubMed Central Google Scholar
Neuberger EWI, Perez I, Le Guiner C, Moser D, Ehlert T, Allais M, et al. Establishment of two quantitative nested qPCR assays targeting the human EPO transgene. Gene Ther. 2016;23:330–9.
Article CAS PubMed Google Scholar
Tozaki T, Ohnuma A, Iwai S, Kikuchi M, Ishige T, Kakoi H, et al. Robustness of digital PCR and real-time PCR in transgene detection for gene-doping control. Anal Chem. 2021;93:7133–9.
Article CAS PubMed Google Scholar
Tozaki T, Ohnuma A, Kikuchi M, Ishige T, Kakoi H, Hirota KI, et al. Robustness of digital PCR and real-time PCR against inhibitors in transgene detection for gene doping control in equestrian sports. Drug Test Anal. 2021;13:1768–75.
Article CAS PubMed Google Scholar
Moser DA, Braga L, Raso A, Zacchigna S, Giacca M, Simon P. Transgene detection by digital droplet PCR. PLoS ONE. 2014;9:e111781.
Article PubMed PubMed Central Google Scholar
Ohnuma A, Tozaki T, Kikuchi M, Ishige T, Kakoi H, Hirota K-i, et al. Multiplex detection of transgenes using πcode technology for gene doping control. Anal Chem. 2023;95:10149–54.
Article CAS PubMed Google Scholar
Salamin O, Kuuranne T, Saugy M, Leuenberger N. Loop-mediated isothermal amplification (LAMP) as an alternative to PCR: a rapid on-site detection of gene doping. Drug Test Anal. 2017;9:1731–7.
Article CAS PubMed Google Scholar
WADA. Laboratory Guidelines-Gene Doping Detection based on Polymerase Chain Reaction (PCR). https://www.wada-ama.org/en/resources/laboratory-guidelines-gene-doping-detection-based-polymerase-chain-reaction-pcr. 2021.
Naumann N, Do C, Vollmert C, Krajina M, Thomas A, Cheung HW, et al. Multiplex detection of seven transgenes for human gene doping analysis. Sci Rep. 2025;15:20219.
Article CAS PubMed PubMed Central Google Scholar
Wong KS, Cheung HW, Szeto CWL, Tsang CYN, Wan TSM, Ho ENM. A multiplex qPCR assay for transgenes detection: a novel approach for gene doping control in horseracing using conventional laboratory setup. Drug Test Anal. 2023;15:879–88.
Comments (0)