Inherited retinal diseases (IRDs) are a group of debilitating illnesses that are genetically varied and cause substantial vision impairment. In the last two decades, advances in genetic profiling have enabled the discovery of over 260 causal mutations linked with hereditary retinal diseases. Though previously believed to be incurable, gene supplementation therapy has significant potential for curing many types of these blinding diseases.
Retinal diseases passed down via families affect persons of all ages, developing at varying speeds. Nonetheless, many of them have degenerative characteristics, which implies that they become worse with time. Retinitis pigmentosa, Choroideremia, Stargardt’s disease, and Achromatopsia are more common types of IRDs.
Immunologically privileged
A gene therapy treatment aims to repair the flawed gene. The retina’s unique physical properties make IRDs highly suited to gene therapy therapies. In contrast to other organs, the eye is a small and easy-to-reach organ that may be used to administer therapy. The retina, immune-privileged, contained, and readily monitored, has been intensively explored for gene therapy treatments during the last two decades.
Because the eye is considered immunologically privileged, it is the perfect place for gene therapy. Normally, when our immune system detects an infectious agent such as a virus in our body, it attempts to combat the issue. However, certain bodily regions are exempt from the usual immune response, so it does not react as readily. If swelling or inflammation happens in certain body parts, there’s a chance that they might be permanently impaired. A cell with a repaired gene is less likely to be rejected when transplanted into the eye.
Treatment Goal
Gene therapy is a therapeutic approach for helping to slow down the course of the disease, not a cure. Gene therapy, since it is specific in addressing the source of the disease-a defective gene-does not require frequent treatments. Patients with some types of retinal disease will need monthly injections, but gene therapy is administered just once.
Many different techniques exist for administering gene therapy therapies to the eye. Gene therapy techniques are most commonly implemented using a vector, which provides repaired genetic material to the cell. The most promising avenues of research involve viruses, but we needn’t worry since all disease-causing viral components have been eliminated. Vectors can be injected, among other means of delivery.
Two different types of injections exist to treat eye issues. Injections into the vitreous, a jelly-like substance close to the retina, are given through direct injections. Therapy for some eye diseases is performed by injecting a drug directly into the subretinal space, which allows the drug to be closer to the affected region of the eye.
Understanding Genes
Our genes are made up of DNA, which directs the construction of proteins that allow our bodies to function. Everyone receives two gene copies from their parents. The genes in question are responsible for the full range of bodily characteristics, from hair color and height to other personal characteristics.
On the other hand, genes are not always constructed correctly. A little alteration to them, a mutation, can affect the production of proteins, which can cause a defect in the body’s capacity to operate. These mutations can affect a person’s breathing, walking, and even digestion. Changes in genes occur due to genetic mutations, aging, or exposure to chemicals and radiation.
The science of gene therapy
Gene therapy has been investigated for over 40 years and has shown promise in reversing or slowing disease’s effects on the most fundamental level of the human body-our genes. Gene therapy is the process of introducing, removing or altering genetic material-DNA or RNA into a patient’s cells to cure a specific disease.
Inherited retinal diseases (IRDs) are a group of debilitating illnesses that are genetically varied and cause substantial vision impairment. In the last two decades, advances in genetic profiling have enabled the discovery of over 260 causal mutations linked with hereditary retinal diseases. Though previously believed to be incurable, gene supplementation therapy has significant potential for curing many types of these blinding diseases.
Genetic therapy’s ultimate goal is to treat an inherited disease by giving a single treatment to fix a defective gene. The process of gene therapy delivers, removes, or replaces genetic material-either DNA or RNA-to a patient’s cells to treat a particular illness. The given genetic material is equipped with directives that alter how the cell produces proteins. For many illnesses, making adjustments for cells that generate too much, too little, or incorrect critical proteins is required.
A functional gene is introduced into the cell via a vector. Because viruses are so good at entering cells, they are utilized as vectors. Although scientists formerly had no clue how to eradicate viral genes, they’ve now found how to eliminate them, and this same capacity may be used to cure or even prevent many illnesses.
Their aim is in this situation to implant the new therapeutic genes into the cell. Before any viral vectors are employed, each is examined several times for safety. The doctor can administer this vector either by injecting it into the body or injecting it outside the body (in-vivo treatment).
No one-size-fits-all solution – Single (monogenic) gene mutations
Each illness caused by a distinct gene mutation demands a unique strategy for gene therapy. There is no such thing as a one-size-fits-all solution. Most gene and cell therapy choices are currently confined to illnesses caused by a single (monogenic) gene mutation.
Certain genetic disorders are caused by mutations (changes) in a single gene, but others, for example, cancer, are caused by abnormalities in numerous genes. Environmental variables, such as ultraviolet radiation from the sun, may contribute to the development of cancer. Complex diseases make it challenging to design and evaluate therapies.
Contact Arizona Retinal
Arizona Retinal Specialists can help you detect the condition early on and prescribe treatment appropriate for you. Please get in touch with us to set an appointment or learn more about how we help people live a good quality of life despite eye conditions. Schedule an eye examination today!
