Genetic Disorders and their Treatment

Dahyun Kim

March 14, 2025

Genetic disorders—what is it about it that makes it so hard for the doctors and researchers to come up with a clear treatment to this?

Genetic disorders are illnesses caused by changes or mutations in DNA sequences. These mutations can be in one gene, multiple genes, or even entire chromosomes. They are classified according to the type of mutation into autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, and mitochondrial disorders depending on the type of mutation. Each category of genetic disorder has its own symptoms and issues. Some examples of genetic disorders include: Huntington's disease (autosomal dominant), cystic fibrosis (autosomal recessive), Rett syndrome (X-linked dominant), hemophilia (X-linked recessive), and LHON (Leber's hereditary optic neuropathy), a mitochondrial disorder.

The traditional treatment of genetic disorders is symptom-based and is not yet able to cure the underlying cause. For instance, cystic fibrosis treatments like antibiotics or physiotherapy are meant to alleviate lung congestion but do not alter the causative gene mutation. Similarly, drugs and therapies for Marfan syndrome and Huntington's disease will slow the progression or mute the symptoms but will not provide a permanent cure. Therapies like bone marrow transplants, oral drugs and injections, and physical therapies improve quality of life but with the price of inefficiency, side effects, or fleetingness of relief.

Then what is the best treatment found so far? 

The answer is gene therapy. Gene therapy is the correction, replacement, or modification of defective genes at the molecular level. Techniques like CRISPR/Cas9 allow scientists to identify defective mutations and perhaps fix them irreversibly. For example, research is being conducted to use CRISPR to correct the gene responsible for Huntington's disease or to insert a healthy gene into the CFTR gene for cystic fibrosis. Similarly, gene therapy is also being explored for hemophilia with AAV-based delivery systems, and for Rett syndrome by editing the gene in such a manner that its original expression is maintained. Mitochondrial illnesses like LHON have also produced promising results in early clinical trials using gene delivery methods to improve vision.

Despite these, however, gene therapy still needs much refinement. It is complicated and costly, and success from studies in the laboratory or from animal models to application to human beings remains difficult to reproduce. It is tricky to get the target gene, introduce it well, and suppress the immune response. Irrespective of all this difficulty, gene therapy has the potential for the disease and not its symptoms to be cured.

Although traditional treatments have succeeded in controlling genetic disease, they fall short of a cure. Gene therapy is a potential alternative that can change the face of treatment and make a bigger difference in patient outcomes in the years to come. As scientists keep working, gene therapy is likely to be the complete solution for treating genetic disease in its source.