Treatment for Genetic Disorders


There is hardly any effective treatment for genetic disorders. Although gene therapy is one possible treatment for such disorders, it is still in its testing phases. Gaucher disease is only one genetic disease that is more treatable as compared to the others. This disorder is treatable with medications, enzyme replacement therapy, and bone marrow transplant. Some other possible treatment options for genetic disorders include:

  • Gene Product Replacement: This is helpful for conditions like hemophilia and growth hormone deficiency where the gene product is a circulatory protein or peptide.
  • Metabolic Manipulation: It is possible to enhance enzyme activity in some disorders through metabolic manipulation. Oral and intravenous drugs are used for this purpose depending on the type of genetic disorder.
  • Environmental Modifications: By avoiding certain environmental triggers, you can increase the chances of treating a particular condition caused by such triggers.
  • Surgery: This is an option in the case of congenital malformations. If these abnormalities are detected before birth itself through prenatal testing, they may be corrected with prenatal surgery.


Frequently asked questions