Treatment of Genetic Disorders


Most genetic disorders, unfortunately, cannot be cured. The available treatments help manage the diseases caused by abnormal genes, while the treatment itself and its efficacy vary from one type of disorder to another. Genetic researchers, however, are very optimistic about gene therapy which has shown promising results in clinical trials. However, it remains unavailable to the wider population and at the moment of writing, gene therapy is used only for clinical trials.

Gene therapy is hoped to cure or improve treatment of genetic disorders by replacing the mutated or malfunctioned gene, manipulating or turning off the gene causing the disease or stimulate other bodily functions to fight the disease. The most common method is replacement of a malfunctioned or sometimes a missed gene with a healthy one. However, gene therapy poses a risk of potentially serious complications, in the first place due to the method that is used to insert the “new“ genes – the use of viruses. These have the ability to identify certain cells as well as to transmit the genetic material into the cells containing malfunctioned or missed gene. For that reason modified viruses are used as vectors or carriers of the healthy genes. This method of insertion of healthy genes may not seem problematic at a first glance but it can cause cause potentially serious complications as already mentioned earlier.


The inserted virus can be perceived as a foreign invader by the immune system. As a result, the immune system triggers a release of antibodies to destroy the virus similar when catching a flu for instance. However, the reaction of the immune system could be more severe to the genetically modified virus than the one causing flu and can even lead to organ failure. In addition to the immune system factor, the use of viruses as vectors poses a risk of viral spread in the body resulting in development of other diseases including cancer, transformation of the inserted virus into its original disease-causing form and genetic changes in the reproductive cells which can be passed to offspring if having children after gene therapy. Due to the mentioned potential side effects and inadequate proof for efficacy of gene therapy it may take some time before it will become available to patients.

As already mentioned earlier, the available treatments for most genetic disorders provide only relief from the symptoms of the disease and delay its progress. Genetic testing, on the other hand, is used to evaluate the risk of an individual for diseases related to genetic factors and prenatal diagnostic testing for genetic disorders. Individuals who are at high risk of developing a potentially serious disease due to the presence of certain genes are sometimes able to prevent it from occurring with early preventive measures which may be sometimes very radical. For example, women who have the so-called autosomal dominant genetic disorder are sometimes recommended total mastectomy (surgical removal of both breast) to prevent breast cancer. Prenatal diagnostic testing, on the other hand, shows if the foetus has a potentially serious genetic disorder in order to enable the parents to decide whether they want to continue or end the pregnancy.