Updated: Jun 18, 2021
Author: Hanah Gomberg
Editors: Ken Saito
Artist: Kimberly Arinton
Throughout my life, I have been told countless times that “my generation is the future of the planet.” Admittedly, this is a daunting task; being responsible for our world is no small feat, but isn’t all youth encompassed in this statement, including the two million children who suffer from X-linked retinitis pigmentosa (RP)? RP is a disease that causes degenerative loss of sight, and until February this year, there was no cure. Gene therapy is currently used to restore the retina, utilizing the RPGR gene as a viral transmitter. The impact of gene therapy is monumental since its use has become more common and has become a standard course of treatment to many other health problems. By saving millions of lives, we are protecting the next generations and the future of our planet.
Playing soccer with my friends was one of my favorite past times during my elementary school years. The thrill of scoring a goal was incomparable, and the pride upon a team victory was priceless. RP linked loss of peripheral vision becomes a threat to children and memories like the ones I had. This visual impairment occurs when the retina’s photoreceptors lose the ability to translate visual input to neural recognition. Over time, the patient’s central vision becomes damaged, and they would have difficulty completing simple tasks, including soccer. Soccer, which had such a positive impact on my friends and me, would be an impossible task. However, with gene therapy, children affected by RP will have no barriers.
During my scientific explorations, I discovered how clinical trials became powerful tools in transforming commonly scientific knowledge into revolutionary solutions. This groundbreaking research is led by Professor MacLaren, the Consultant Ophthalmologist at the Oxford Eye Hospital. He assures that “novel genetic therapies when working, lead to a clear improvement in neuronal function.” Gene therapy uses the common practice of altering genetic code, particularly the RPGR gene. Medical experts use this to stop the deterioration of the retina and restore the patient’s vision. This could save countless lives since it “holds great hope for various other degenerative conditions that have a genetic basis,” like cancer and diabetes.
You may be wondering, what exactly does gene therapy do, and why is it so revolutionary? Since the RPGR has a volatile genetic code, it becomes unstable when used in a laboratory. Thankfully, scientists at Oxford University reprogrammed RPGR to enable patients to have a chance to regain their vision. In my interview with Rosane Silvestre de Castro, a founding member of the Brazilian Cornea and Eye Bank, she explained that “genes are like engines, RP is merely a mutation of the RGPR gene that is faulty, as the cells multiply the vision worsens.” Therefore, once the RPGR gene is corrected and injected into the eye, it multiplies, saving your photoreceptors. Castro stated that diseases with a genetic basis are just mutations of a faulty gene. If you can fix the defect, there is a potential to fix it all.
The future of the gene therapy technique is bright and promising. Recent studies, like the University of Bristol’s glaucoma (the leading cause of blindness gene therapy) research, show that gene therapy can be effective against ALS (a neurodegenerative disease). The Mayo clinic affirmed this, mentioning that gene therapy could treat various diseases, “some of them being cancer, cystic fibrosis, heart disease, diabetes, hemophilia[, and] AIDS.” Furthermore, retinal gene therapy’s success and impact are highlighted through a testimony by Kurtis, one of the patients. Since there was no way of knowing how fast the disease will spread, Kurtis applied for this trial. When given the choice, he volunteered to receive experimental treatment on his most heavily impaired eye, and the results were astonishing. Roughly a month into the treatment, his vision began to return in the treated eye; he said he could see “sharpness and depth of colour.” Eventually, he could “see so much more at once than ever before.” Kurtis mentions that this study was “life-changing” and improved his well-being immensely. Additionally, in 2017, the New England Journal of Medicine reported astonishing results in gene therapy. In the research, “toddlers who were supposed to have become paralysed […] were sitting and rolling; some were walking and talking.”
It is easy to think of two million cases and lose sight of each individual's struggles. It is easy not to consider that they have dreams and hopes. It is so easy to think of Kurtis as one of two million. This research, this magnificent, life-changing piece of work, shows how many lives have been changed. Gene therapy is the future of medicine, and it will bring change to the world by saving lives.
Medsci.ox.ac.uk. 2020. Gene Therapy Shows Promise In Tackling Common Cause Of
Childhood Blindness — University Of Oxford, Medical Sciences Division. [online]
Available at: <https://www.medsci.ox.ac.uk/news/gene-therapy-shows-promise-in-
tackling-common-cause-of-childhood-blindness> [Accessed 30 July 2020].
Clinicaltrials.gov. 2020. Gene Therapy For X-Linked Retinitis Pigmentosa (XLRP) Retinitis
Pigmentosa Gtpase Regulator
(RPGR) - Full Text View - Clinicaltrials.Gov. [online] Available at:
=GB&draw=2&rank=2> [Accessed 30 July 2020].
Bionews.org.uk. 2020. Retinal Gene Therapy Trial Shows Positive Result - Bionews. [online]
Available at: <https://www.bionews.org.uk/page_148211> [Accessed 30 July 2020].
Nature.com. 2020. Genes And Disease | Learn Science At Scitable. [online] Available at:
<https://www.nature.com/scitable/topic/genes-and-disease-17/> [Accessed 30 July 2020].
Reference, G., 2020. Retinitis Pigmentosa. [online] Genetics Home Reference. Available at:
<https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa> [Accessed 30 July 2020].
Medical Xpress.com. 2020. Study Shows Glaucoma Could Be Successfully Treated With
Gene Therapy. [online] Available at: <https://medicalxpress.com/news/2020-04-
glaucoma-successfully-gene-therapy.html> [Accessed 30 July 2020].
Mayoclinic.org. 2020. Gene Therapy - Mayo Clinic. [online] Available at:
[Accessed 30 July 2020].
NBC Boston. 2020. 'Incredible Progress': New Research Reports Possible Gene Therapy For
ALS. [online] Available at: <https://www.nbcboston.com/news/health/incredible-
progress-new-research-reports-possible-gene-therapy-for-als/2156171/> [Accessed 30
The Monthly. 2020. Chasing The Miracle Of Gene Therapy. [online] Available at:
finkel/chasing-miracle-gene-therapy#mtr> [Accessed 30 July 2020].
Nature.com. 2020. CRISPR Gene Editing Proves Safe In A Clinical Trial. [online] Available at:
<https://www.nature.com/articles/d41586-020-00339-3> [Accessed 30 July 2020].