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Introduction to Gene Therapy Research

Paper Type: Free Essay Subject: Biology
Wordcount: 843 words Published: 7th Jun 2018

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Gene therapy is a type of treatment that occurs at the molecular level in which defective genes are replaced by normal genes in an attempt to correct genetic disorders. The development of gene therapy which started in the early 1990s has brought hope for thousands of people with life threatening genetic disorders. Disorders that were once thought incurable are now being cured due to advanced research in gene therapy. Gene therapy allows for the treatment of numerous disorders and even genetic diseases like cancer and neurodegenerative diseases. An example, a type of Leber’s congenital amaurosis (LCA), an inherited eye disease, can only be cured using gene therapy. (ASGCT, 2000)

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LCA is an inherited degenerative eye disease that targets the retinal area typically causing congenital blindness in early infancy that usually lasts an entire lifespan. The retina’s purpose is to receive light, convert it into neural signals, and send those neural signals to the brain for visual recognition (Healthline Medical Team, 2015). Since LCA targets the retinal area, patients with this disorder are completely unresponsive to light and cannot see. Occurring in around 2 to 3 per 100,000 newborns, LCA is not only very rare but also one of the leading causes in early child blindness. LCA most commonly has an autosomal recessive pattern of inheritance meaning that both copies of the allele in each cell from both parents have mutations. In this case, both parents of an individual with an autosomal recessive pattern of inheritance carry one copy of the mutated allele without showing any signs and symptoms of the actual condition. So there is only a 25% chance that the child will have the disease, showing how rare LCA really is. There are 14-17 known genes which all have different functions and are all equally necessary for vision that have the possibility of carrying mutations responsible for LCA. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes while mutations in the other genes are rare. So far LCA is only treatable with gene therapy if the mutation occurs to the RPE65 gene, whose role is to produce a type of vitamin A needed to keep light-sensing photoreceptor cells fully functional. Otherwise the disease is untreatable and gets worse as a child gets older to a point of complete blindness with no hope of ever being able to see again. (Manning, 2016), (AAPOS, 2014), (National Eye Institute, 2017)Using gene therapy, experts are able to replace the mutated RPE65 gene with a healthy RPE65 gene restoring its original function. This is done by retinal injection, a method in which modified viruses carrying a normal copy of the human RPE65 gene are injected beneath the retina. Restoring the gene’s original function gives the retina the special kind of Vitamin A it needs and allows it to absorb light in order for visual recognition. This process was mastered through a series of trials done by scientists. Initially tested on animals such as dogs, the procedure restored vision for blind dogs. Then after years of research and dedication, the process began being tested on humans after being deemed successful on animals. In 2007, the first successful human clinical trial treating Leber congenital amaurosis was reported at the University of Pennsylvania, USA. Although, the process hasn’t been 100 percent successful, it has worked repeatedly and has been proven to be efficient. (Fighting Blindness, 2016)In conclusion, gene therapy is a work in progress. So far gene therapy has been developed to treat numerous disorders and diseases but research is being done to increase this number. LCA is an example where gene therapy has shown great success. Although, it can only be used to treat one type of LCA causing gene mutation, scientists are continuously working on ways to treat other mutations and also increase the success rate. As technology improves daily, gene therapy will be the staple of the 21st century medicine saving millions of lives.


American society of gene & cell therapy (2000) Available at: http://www.asgct.org/about_gene_therapy/diseases.php (Accessed: 12 January 2017).

LCA Gene Therapy trial (2016) Available at: http://www.rpfightingblindness.org.uk/index.php?tln=research&pageid=17 (Accessed: 12 January 2017).

Media, 2017 H. (2015) Available at:http://www.healthline.com/human-body-maps/retina (Accessed: 12 January 2017).Reference,
G.H. (2017) Leber congenital amaurosis. Available at: https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis#inheritance (Accessed: 12 January 2017).
Reserved, A.A.R. (2014) Leber’s congenital Amaurosis – AAPOS. Available at: https://www.aapos.org/terms/conditions/66 (Accessed: 12 January 2017). The Gene Therapy journey: From bench to bedside (2016) Available at: https://nei.nih.gov/lca/blindness (Accessed: 12 January 2017).


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