• Areeg Sweis

Gene Therapy for Rare Disease Patients

It can be difficult for many rare disease patients and their families to understand their diagnosis or how it can be treated. While there are several methods patients can take to understand their disease better, the newest recommended technique is gene therapy. Gene therapy is an excellent way for rare disease patients to learn about their diagnosis or get possible treatment on certain occasions.


What is gene therapy?


As reported by MedlinePlus, gene therapy is a method that uses genes to prevent or treat a disease. Hopefully, in the future, physicians will be able to treat disease by replacing medications or surgeries by inserting genes into a patient’s cells instead. As of now, gene therapy is used to do the following (via the Food & Drug Administrative FDA):


· Replace disease-causing genes with a healthy gene

· Deactivating a disease-causing gene that is not working properly

· Initiating a new or altered gene into an individual's body to treat a disease


Types of gene therapy


As of 2021, there are only two types of gene therapy, though further research in the future could produce more techniques. The two current gene therapy techniques include germline and somatic gene therapy.


Germline therapy


Germline therapy occurs when the genes are modified inside the germ or gamete cells, including reproduction cells, such as the sperm or ova. Once inserted into the reproductive cells, the modified gamete cells combine to form a zygote. According to News Medical Life Sciences, germline therapy could be used to treat hereditary diseases. However, Switzerland, Australia, and Germany have banned the treatment due to the uncertainty of its risks.


Somatic gene therapy


Somatic gene therapy involves inserting therapeutic DNA into a person's body cells rather than germ cells or gametes like the germline therapy method. With this method, the altered genes of the person receiving somatic gene therapy will not affect their offspring, as their reproductive cells are not changed. While most countries approve of this method, many of still wary due to somatic gene therapy being in the early stages of development.


How can this help rare disease patients?


So, how does all this information pertain to rare disease patients and their families? As reported by the National Center for Advancing Translational Sciences, though over 7,000 identified rare diseases, only a few hundred treatment methods are available. While some drug treatments are available to manage a rare disease, gene therapy can potentially correct the genetic defects causing the disease. In addition, a successful gene therapy session may only require one session to cure a patient of their disease completely.


Gene therapy is an up-and-coming technique, with its first FDA approval being in 2017. It is an excellent opportunity for rare disease and their families to try other methods to treat their condition. However, if a rare disease patient decides to participate in gene therapy, they should be aware of the possible risks, given that this method is relatively new. If interested, the individual must conduct as much research as possible before deciding to participate.




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