Currently, there are more than 4,000 genetic disorders identified till date. Unfortunately, scientists and doctors are unable to deduce ways to treat most of these diseases. The current available treatment methods are listed below
Prophylactic Therapy: Prevention is always better than cure. In this therapy, the symptoms are prevented before they can occur. Genetic material of the individual is assessed by means of genetic tests and depending on these results; the genetic condition of the person is assessed. One good example of this therapy is phenylketonuria, an autosomal recessive condition caused due to abnormalities in Phenylalanine hydroxylase, which is an enzyme that converts phenylalanine to tyrosine. Genetic material of infants is diagnosed for this gene. Infants suffering with this disease can grow normally if they are fed very early on with diet that is low in phenylalanine and supplemented with tyrosine.
Replacement Therapy: In this, the already defective gene product is replaced with a functional gene product. Some examples of this therapy include supplementing external insulin for diabetics and replacement of growth hormone in individuals with growth hormone deficiency. Another variation in this approach is to replace the entire gene with a normal one, a therapy called as gene therapy. If the gene is replaced in either the sperm or ova, it is called as the germ-line gene therapy. In case the gene is replaced in the non-reproductive or vegetative cells of the body, it is called as the somatic gene therapy.Treatment of Symptoms: This is the most routinely followed procedure for the treatment of genetic disorders. Drugs or medications are being developed in order to reduce the symptoms that appear in affected individuals. In certain conditions such as achondroplasia, even surgery is performed in order lengthen the limbs.
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