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Treating Genetic Diseases Essay

1160 words - 5 pages

To date, over four thousand genetic diseases due to single gene defects have been discovered (“How many genetic diseases are there?”). These disorders are unavoidable because they are determined at the moment of conception. Since there are no preventative measures for such illnesses, the most doctors can do is prescribe courses of action for treatment or possible cures. Unfortunately, treatments and or cures for every disease have not been found. For example, researchers are searching for the faulty gene in Retinitis Pigmentosa, a genetic disease of the eyes, in order to determine a proper treatment for it. Support through funding is crucial to the success of this type of research. With the recent increase in technological knowledge, several new theories of treatment for Retinitis Pigmentosa and other genetic disorders have arisen.

Retinitis Pigmentosa can be inherited from a dominant or recessive gene, an X-linked chromosome, or have an unknown cause. This disease causes trouble with vision in dim lighting or in the dark and loss of side or peripheral vision. The time that it takes for these effects to emerge depends on the individual who carries the disorder (“Retinitis Pigmentosa”). These permanent changes occur due to inactive retinal cells (“Retinitis Pigmentosa”), as well as rod and cone photoreceptor cell death in the eyes (Komeima). It is possible for some people with RP to also develop cataracts. Even though the cataracts can be removed, the patient will still have this disease after the procedure, with a partial amount of their vision restored (“Retinitis Pigmentosa”).

The simplest theory of alleviating the symptoms of Retinitis Pigmentosa is to add certain supplements to your diet. Studies are currently “investigating the benefits of mixtures of nutritional supplements which have an anti-oxidant effect” such as Vitamin A (“Retinitis Pigmentosa”). An experiment was done on mice to test the theory that cone death is due to oxygen deprivation. The purpose of this test was to see if anti-oxidants would prevent oxidative damage in the cones. The results proved the researchers’ hypothesis that anti-oxidants prevented oxygen loss along with supporting cone function. This experiment leads researchers one step closer to finding a cure, as the consumption of anti-oxidants might even be a possible treatment in itself. Researchers are directing proper courses of action through gene and stem cell therapy. They are also working on creating growth factors to help the damaged cells grow and repair themselves (Komeima).

The National Natural Science Foundation of China supported a more advanced study that was conducted on rats to test the effects of brain-derived neurotrophic factor (BDNF) gene by electroporation to see if photoreceptors in the cones can be restored in patients with Retinitis Pigmentosa. Electroporation is “a process using high-voltage current to make cell membranes permeable to allow the introduction of new DNA”...

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