Gene Therapy and Choroideremia

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          Gene therapy is the use of genes to treat or prevent diseases. This includes their use as replacement genes for defective ones in an individual, and their use as medicine, as giving an individual specific, new genes can help them combat a disease. Gene therapy is a promising tool, and scientists today are experimenting with it to use it against diseases which currently have no forms of treatment. Gene therapy transports genes to certain parts of the body by injecting carriers (called vectors) into either directly the patient, or into cells which are put into the patient. Vectors are typically viruses which have had a desired gene placed in them. These modified viruses introduce genes to parts of the body and spread them among the cells. Since the techniques currently used in gene therapy have only recently been developed, their safety is questioned, and research is being done to make gene therapy a more viable form of treatment (US National Library of Medicine, 2014).



          Research into gene therapy treatment for choroideremia, an X-linked recessive eye disease, is beginning to show promising results (Beall, 2014). Choroideremia is a disease in which retinal cells die due to a defective CHM gene not producing a certain protein, leading to gradual eyesight deterioration and blindness. There is no  treatment for choroideremia. This, along with the ease of using gene therapy on the retina due to its structure, was what prompted research into the use of gene therapy for the treatment of the disease (Wykoff, 2014). The research effort, lead by Dr. Robert MacLaren at the University of Oxford, has been in progress for 2 years. Recent trial tests using gene therapy to insert corrective genes have had all six patients with the disease reporting recovery in the form of better eyesight. The treatment focuses on correcting neuron retinal cells which remain active for an individual’s lifetime, expanding on an earlier gene therapy technique used to treat Leber’s congenital amaurosis, another eye disease (Beall, 2014). MacLaren expresses his desire for the treatment technique to ultimately prevent the blindness previously inevitable with the disease. However, other experts remark that, as the disease causes slow deterioration in eyesight, more long-term studies are required to prove the treatment’s effectiveness. MacLaren also stated that the treatment can only prevent the loss of retinal cells, but cannot recover previously damaged cells, something only research into stem cells can accomplish. However, research into the treatment is ongoing.

You can read the article here:



          I believe that this development is significant in expanding the scope of gene therapy. Research such as this will allow gene therapy to be used more commonly for the treatment of disease, and will promote further research into applications of gene therapy. I believe that such developments will change gene therapy from a rare clinical practice to a practical and efficient treatment option for many diseases.

A Question for You

Given the currently limited use of gene therapy for treatment, do you think that treatments such as this one will be accessible by everyone once they can be used in clinics? Will only those rich enough to afford them be able to use them, or will they be made more accessible to the common person?


Beall, A. (2014, January 16). Gene therapy restores sight in people with eye disease.                        Newscientist. Retrieved May 10, 2014, from                                                                                                                            people-with-eye-disease.html

US National Library of Medicine. (2014, May 5). What is gene therapy?. Genetics Home                    Reference. Retrieved May 10, 2014, from                                                                                                        

Wykoff, C. (2014, May 7). Gene therapy for retinal diseases is within sight. Medscape.                        Retrieved May 10, 2014, from


4 thoughts on “Gene Therapy and Choroideremia

  1. I agree that gene therapy has a significant outcome of the treatment for Choroideremia, and for other diseases. When this new form of treatment is used in clinics, I believe that it won’t be assessable for everyone. The reason is that when new medicine/products go on the markets, the marketing industry would set the price to be relatively high. In this case, mostly the rich individuals would be able to afford this treatment.

  2. I believe that health insurance will make treatment for choroideremia affordable at least to those with a middle class income by covering the majority of the cost. Today, the government covers basic eye care services for most in Ontario and this should be the case if treatment does become available. I think that the government would feel it should be made available to as many people as possible in order to reduce the strain on the society. For example, schooling for blind is not easily available, and the government would need to devote more time and resources to address this than they would by helping these citizens before they become blind. Also, no insurance coverage would be a way of saying only the wealthy deserve the treatment, and that other citizens are less important, which isn’t right.

  3. Treatment for choroideremia will continue to advance and become more effective over time. People in Ontario with an average yearly income (middle class) should be able to afford the treatment because of the government’s heath care plan. It might still be costly but if an individual were in need of it, they will possibly be given the treatment. If the treatment is not available to them because of payment problems, the government should somehow step in to make it more affordable to all citizens in order to make the society more just. Spending funds on making this readily available will save them time, money and future problems.

  4. Treatment for choroidermia and other such diseases that are not as common or well known as cancer or diabetes will not be available to the public in clinics due to lack of demand. The more rare diseases (if the treatment is costly and not covered by a public healthcare system) may only be able to be afforded by the rich, leaving the poor to be left with no options. However, once gene therapy can be readily applied to many forms of common diseases, it will quickly rise in demand and eventually be easily available to the public in clinics, and likely the treatments for more rare ones in hospitals.

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