DNA provides the blueprint for life: it codes the information required for cells to generate the compounds required for growth, development and metabolism. Genetic diseases may develop due to abnormalities or deletions of single genes, or large genetic defects caused by chromosomal abnormalities. Genetic diseases vary greatly in their symptoms and underlying causes, but many are treated with similar treatment strategies.
Lifestyle Modifications
Some genetic disorders are metabolic diseases caused by a defect to a gene required for metabolism. Patients with metabolic genetic disorders have genetic mutations that lead to the accumulation of unmetabolized chemicals in their bodies. For such genetic disorders, avoiding the accumulation of toxic factors in cells can treat the genetic disease.
The genetic disorder phenylketonuria, characterized by the inability to metabolize a compound called phenylalanine, is one such disease that can be treated with diet modification, reports PKU.com. Phenylalanine makes up a portion of almost all proteins, and accumulation of the compound in nerve cells can lead to brain damage in affected patients. Those with phenylketonuria need to follow low-protein diets and avoid artificial sweeteners containing phenylalanine.
Treatment for Symptoms
In many cases, there is no treatment for the underlying mutation that's causing the genetic disease, so treatments focus on alleviating symptoms such as pain, slowing the progression of the disease, or supplementing to compensate for the loss of proteins or cellular function due to the disease.
The genetic disease Turner syndrome, for example, is characterized by the loss of one X chromosome in girls and leads to abnormal development during puberty. The ovaries of girls with Turner syndrome do not develop normally, so they do not secrete the hormones required for proper development in puberty. Turner's is commonly treated with hormone replacement therapy to allow proper development and alleviate some of the symptoms of the disease, reports the University of Utah.
Gene Therapy
Another type of potential treatment in development for genetic disease is gene therapy, or the use of DNA-based therapy to treat or cure a genetic disease. Gene therapy may help treat diseases caused by defects or deletions in a single known gene, although gene therapy is not useful for genetic diseases involving multiple gene deletions or chromosomal abnormalities. In diseases caused by defects in a single gene, gene therapy could be used to introduce a functional copy of the gene into cells to treat the root of the disorder.
As of June 2010, the FDA reports that there are no approved gene therapy treatments in use in the United States, though gene therapy is the subject of much research and study, and may present a treatment alternative in the future.
