fGenetic disorders are health conditions that occur due to a mutation in the genetic code. There are estimated to be 10,000 different types of diseases caused by mutations in a single gene. According to the World Health Organization, 10 out of every 1000 people, or between 70 million and 80 million people globally, are affected by one of these single-gene diseases.
As most genetic disorders cannot be cured, affected individuals typically witness a progression of their symptoms over time and a diminished quality of life. However, recent developments in medical science in the field of gene therapy are showing promise for treating and even curing genetic disorders. In this article, we will explore gene therapy and its potential for those who suffer from genetic disorders.
Types of Genetic Disorders
While there are thousands of different types of genetic diseases, they typically fall under one of the following three categories:
- Single-gene disorders: These genetic disorders result from a mutation in one gene. Also, referred to as monogenic, they include disorders like cystic fibrosis, sickle cell anemia, CMT4 and Tay-Sachs disease.
- Chromosomal disorders: These affect the structure that contains the genetic material, known as the chromosome. Chromosomal disorders are the result of abnormalities in the number or structure of chromosomes in a cell. Examples of these disorders include Down syndrome, Turner syndrome, and Fragile X syndrome.
- Complex disorders: Complex disorders are the result of mutations in multiple genes combined with environmental or lifestyle factors. Examples of complex genetic disorders include Alzheimer’s disease, multiple sclerosis, diabetes, and asthma.
What is Gene Therapy?
Gene therapy is a type of medical intervention that aims to cure the underlying cause of a disease by targeting the defective genes responsible for the condition. Defects of mutations in genetic material are typically caused by hereditary factors or environmental ones such as UV or chemical exposure, or radiation. Depending on the type of genetic disorder, gene therapies can currently be used to:
- Replace missing genes or genes that are causing disease with healthy ones.
- Introduce new genes into the body to aid in treating a disease
- Turn off genes that are responsible for disease or functioning improperly.
At present, the U.S. Food and Drug Administration (FDA) has given its approval for gene therapy for certain genetic disorders, including hemophilia, spinal muscular atrophy, and sickle cell disease. However, for many people affected with a genetic disorder, gene therapy is still in the development stages and is currently only available as part of a clinical trial.
The Future
While gene therapy may seem like a distant dream, many researchers on the future of genetic therapies expect gene therapies to be the standard of care for rare genetic diseases before 2036 and to be able to cure them beyond this date.
Gene therapy holds the potential to prevent, cure, and even eliminate genetic disorders. By targeting the root cause of the disease and addressing it directly, this revolutionary therapy can improve the lives of tens of millions of people around the world and ultimately transform the way we view healthcare.
