An estimated 32 million Americans suffer from colorblindness, a single-gene disorder involving the cones of the eyes. Commonly confused with monochromasy, the inability to see any color, colorblindness is actually the incapability of telling apart certain colors. There are five types of colorblindness that vary in severity and in what colors cannot be seen. People that suffer from colorblindness face everyday disadvantages such as: not knowing whether meat is cooked, reading stoplights, and picking out matching clothes for the day. Jobs such as pilot, electrician, and firefighter are out the equation as well for the colorblind.
As of now there is no documented cure for colorblindness in humans. Recently, however, nine male squirrel monkeys have been cured of their colorblindness through gene therapy. Is this the breakthrough needed to cure colorblindness in humans?
All male squirrel monkeys are born with red/green colorblindness (Genevolve Vision Diagnostics). According to Dr. Jay Neitz, if the missing color pigment can be added, the cones in the eye should be able to adapt and begin to see the new color.
Before proceeding with the procedure of adding the pigment, Dalton, one of the test subjects, has his vision tested. The monkey is placed in front of a touch screen that shows shapes of different colors. After making the correct choice Dalton is rewarded with grape juice, when incorrect, a buzzer sounds. Having made certain Dalton suffers from red/green colorblindness, Dr. Jay Neitz and his team may now proceed with the procedure.
Gene therapy, the method that will be practiced on Dalton, is still in its infancy and is still considered a risky option.
Through gene therapy mutated genes can be replaced or inactivated or new genes can be inserted. In Dalton’s case the latter will be taking place. Human cone pigment that is sensitive to reds and greens is placed in a virus and injected into the eyes. This is done in hopes that these pigments will adapt and that the eye will adjust and be able to see these colors. After a few weeks, Dalton returns to the colorblindness test and passes with flying colors (pun intended). This adult squirrel monkey is now able to see reds and greens, something he had never been able to do previously. So how does this all work?
When the pigment was injected into the eye it used the visual circuitry already in place and added the new color to Dalton’s vision. Before the surgery, Dalton only had M and S cones, meaning he could see his yellows and blues but not his reds and greens. When the third pigment or cone was added, it split the M and S cones pathway into two sending new patterns from the retina. One of these pathways becomes the red-green pathway that was missing before the surgery. In theory the same thing would happen to humans if the surgery were done.
Currently, gene therapy is considered too unpredictable to use on humans except when it comes to incurable diseases. There are still many concerns about the technique. There is a worry that the being able to see brand new colors may have negative psychological side effects. Although the monkeys have shown none of these side effects, humans have been known to process and react to color differently. One study by Alexander Strauss that when strong men were put into pink rooms for 15 minutes 98% would show signs of muscle weakness and slowed heart rates (Sapusek, Shelby). Another risk is the surgery itself. It is considered sub retinal and because of this there comes a risk of infection, retinal detachment, and blindness. Before gene therapy can be performed on humans, the procedure must be reviewed and approved by the “National Institute of Health’s (NIH) Office of Recombinant DNA Activities (ORDA)/ Recombinant DNA Advisory Committee (RAC) and by the Food and Drug Administration (FDA). In addition to approval of an Investigational New Drug Application (IND) from the FDA, approval from an Institutional Review Board (IRB) where the study will take place must also be obtained,” (GeneTherapy). The surgery must be proved as safe to these many governmental departments.
While there are some negatives to the gene therapy and this surgery, there are also many positives if the surgery proves effective. Number one of course would be the curing of colorblindness. It will also help further research on the curing of retinal diseases through gene therapy. If this is successful, gene therapy could in theory be used other retinal diseases through the same method. In fact, it already is being used successfully on a retinal disease called Leber’s congenital amaurosis that causes severe vision problems. It seems that Dr. Neitz is close to a major breakthrough in curing colorblindness.
A breakthrough in the field of gene therapy may mean a lot more than a bunch of men being able to tell red from green. It may in fact save millions of lives. While the methods vary somewhat, the idea behind it is still the same, to replace mutated genes or add new ones entirely. Every year, 1.3 million Americans die of heart disease or cancer. They are the two leading causes of death. One thing they have in common is that they both someday may be curable through gene therapy. Gene therapy trials on cancer account for two-thirds of total trials. Some of these trials are in their final stages and almost fully operational. Gene therapy is currently being used to repair those cells damaged by heart disease but as of now cannot yet reach all parts of the heart.
I personally am pulling for Dr. Neitz and his team. I suffer from moderate to severe red-green colorblindness and would love to be cured of it. It’s not something I notice every single day, but I would say about three or four times a week I notice myself struggling with different colors. Other than reds and greens, I also struggle with purple and blue as well as yellow and light green to name a few. It’s difficult for me to tell when meat is cooked or whether fruits are ripe. Luckily I never dreamed about being a police officer or a pilot because those jobs are out of the question. No matter what career path I choose, I’m sure there will sometimes be difficulties because of my colorblindness. Learning more about gene therapy made me wonder what else it could fix. I discovered that gene therapy is currently being used or in the test stages for both genetic disorders and acquired diseases. It may be able to help be people with conditions ranging from hemophilia to HIV to cancer. Curing colorblindness would be monumental, but curing cancer and these other diseases would truly be a miracle for so many people. Gene therapy could go on to save millions of lives if it is perfected. Whether it can do that is not yet certain, but at the very least it does seem like a cure for colorblindness. About 8% of men throughout the world are colorblind and they all have hurdles to overcome. Whether it’s the men in Europe who cannot get a drivers license or those who cannot pursue their dream job, many would be affected positively through a cure.
Throughout the years animal testing has led to many scientific breakthroughs. Before humans ever had insulin for diabetes or a cure for tuberculosis, it was first thoroughly tested on animals. At this time we are still in the midst of that testing period when it comes to cell therapy and curing colorblindness. That being said, none of the squirrel monkeys subjected to the cell therapy have reacted negatively. It is not out of the question to believe that we will have a cure ready for humans before the end of the decade. Curing colorblindness may not save any lives, but it will do a great deal of good. Even more importantly, it takes us one step closer to fully understanding cell therapy and finding cures for many diseases.
An Analysis of the Things in a Whole New Way Curing Colorblindness. (2023, Jan 15). Retrieved from https://paperap.com/an-analysis-of-the-things-in-a-whole-new-way-curing-colorblindness/