Writer: Aizah Faisal
What is Gene Therapy?
Have you ever wondered why superhumans don't exist in our reality? We are fully equipped and able to create a species of "superhumans" - yet we are restricted by the ethical debate about what branch of gene therapy is morally acceptable.
Gene therapy is a technique that manipulates present genes by replacing defective genes with healthy ones to treat genetic diseases. It is an artificial method that introduces DNA into the cells of the human body. [1]
Gene therapies use these three main approaches:
Replacing a Faulty Gene: Adding a healthy version of a gene to replace a defective one.
Deactivating a Harmful Gene: Turning off a gene that contributes to disease.
Introducing a New Gene: Adding or altering genes to help treat illnesses. [2]
Basis of Gene doping
Gene doping is a category of gene therapy, which, instead of altering a gene for treatment (restoring function linked to a damaged or absent gene), involves inserting DNA to enhance athletic performance. [3] Another application of gene doping is to heal severe sports injuries. In some cases, sports injuries are so severe that they force athletes to eliminate sports. [4]
In 1999, researchers led by Dr. H. Lee Sweeney at the University of Pennsylvania conducted one of the pioneering experiments in gene doping. The researchers worked with mice and overexpressed a gene called insulin-like growth factor 1 (IGF-1). IGF-1 is known to play a crucial role in muscle growth and development.
Sweeney's intention with the experiment was a way to potentially reverse muscle degeneration caused by diseases like Duchenne muscular dystrophy (DMD), a sex-linked genetic disorder. In patients with DMD, a crucial muscle protein called dystrophin gradually becomes ineffective during the early years of life. This dysfunction leads to muscle fiber loss, increased fibrosis, and ultimately a complete loss of muscle function. When (IGF-1) was inserted into the muscle fibers and/or cells, it caused the cells to grow.
Sweeney and his colleagues further found that when the muscle fibers of the mice were exposed to IGF-1, not only did fibrosis decrease as the mice aged, but muscle mass increased by about 40%. When the mice reached the equivalent of senior citizens (around 20 months of age for mice), they retained the strength and speed that they had in their youth. Due to these findings and subsequent studies, the IGF-1-enhanced mice earned the nickname "Schwarzenegger mice." [5]
After Sweeney's discovery, more experimentation was done regarding gene doping. In 2004, researchers developed a "marathon mouse" with significantly greater endurance than typical mice by introducing the gene that expresses PPAR gamma. The scientists behind these publications were approached directly by athletes and coaches interested in accessing the technology. This activity became public knowledge in 2006 when it was included as evidence in the trial of a German coach. [3]
Risks of Gene doping
Gene doping poses several risk factors and can be fatal in most cases. Some common risks include:
Rejection of new genes: The body can provoke an immune response. The immune system may identify the gene as foreign and react, potentially causing inflammation, tissue damage, or other negative effects.
Unintended alterations: Gene editing might not be completely accurate, leading to unintended alterations in the genome. These off-target effects could disrupt normal cellular functions or even increase the risk of developing diseases like cancer.
Cancer Risk: Some gene therapy vectors (deliverers of the gene) can increase cancer risk by activating cancer-causing genes or disrupting genes that prevent tumors, potentially leading to cancer.
Mutations: Manipulating genes can cause unintended genetic mutations with unknown effects, including possible hereditary impacts if these changes are passed on to future generations.
Psychological effects: Gene doping raises ethical issues and could have psychological effects on athletes and the sports community. It undermines fair competition and trust in the integrity of sports. [6][7]
Ethical issues associated with gene doping
The World Anti-Doping Agency (WADA) determined that any non-therapeutic form of genetic manipulation for enhancement of athletic performance is banned under its code. Why exactly is gene doping banned but not gene therapy as a whole?
The high risks associated with gene therapy can be justified by the potential of saving the lives of individuals with diseases. [3] Alain Fischer worked in clinical trials of gene therapy in children with severe combined immunodeficiency (SCID), a rare genetic disease in which a baby is born with a very weak immune system that can't fight off infections properly leading them to be vulnerable to illnesses. Fischer stated "Only people who are dying would have reasonable grounds for using it. Using gene therapy for doping is ethically unacceptable and scientifically stupid." [8]
In sports, doping has traditionally been the term that describes the process of using illegal performance-enhancement substances. Gene doping is a relatively new term that is yet to be properly tested on human beings as gene modification in itself is controversial.
Gene modification is divided into two types: somatic therapy and germ-line therapy. Somatic therapy involves altering genes in adult cells, affecting only the individual and not their descendants. For example, modifying cells to produce more testosterone. This type of therapy can only be applied to existing individuals. Modifications through germ-line therapy are heritable, impacting the genetic makeup of offspring This type of modification raises ethical and safety concerns due to the permanent alteration of the DNA and the potential unintended consequences for future generations. [9]
Other ethical concerns include:
Fairness in Sports: Gene doping can give some athletes an unfair advantage, breaking the principle of fair competition and questioning what a level playing field means. [6]
Health Concerns: The safety of gene doping is not well understood, and athletes could face unknown health risks and long-term health problems. [7]
Unnecessary: Gene doping blurs the boundary between therapy and enhancement. [10]
Societal Impact: Gene doping might worsen existing inequalities by giving an edge to athletes and countries that have access to advanced genetic technologies and resources. [11]
Sources & Works Cited
[1] Byju’s: https://byjus.com/biology/gene-therapy/
[2] FDA: https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/what-gene-therapy
[3] Wikipedia: https://en.wikipedia.org/wiki/Gene_doping#:~:text=Gene doping would involve the,the cells back to the
[4] NCBI: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481729/#:~:text=There are several genes related,%2C autoimmunization%2C and heart attack.
[8] embopress: https://www.embopress.org/doi/full/10.1038/sj.embor.7400968
[9] sportjournal: https://thesportjournal.org/article/ethical-considerations-of-genetic-manipulation-in-sport/
[10] thehastingscenter: https://www.thehastingscenter.org/ethicalissuesingenedoping/
Comments