Potential of gene therapy.

The goal of gene therapy research is to determine whether a new gene can be used to replace or inactivate a mutated gene to treat or possibly prevent a genetic disease. The diagrams below represent a section of a gene's DNA sequence. Researchers are testing a few methods of potential gene therapies, including:

Providing a healthy copy of a mutated gene that causes disease

Introducing a new gene into the body

Suppressing, or “knocking out,” a mutated gene that is functioning improperly

Gene therapy’s focus on the eye.

In the case of inherited retinal diseases (IRDs), researchers are striving to develop gene therapy treatments to deliver a functioning copy of one specific mutated gene directly to the retina. The hypothesis? Once the body has this functioning copy of the gene, it should restore the production of the necessary protein or stop the production of the harmful protein.

 

Using viral vectors to deliver a copy of a healthy gene.

One way researchers deliver a healthy copy of the gene to a patient's retinal cells uses a carrier, called a vector.

Some of the most common vectors are made from altered viruses. Viruses are commonly used as vectors because of their natural ability to enter specific cells.

Exploring the potential of gene therapy.

For gene therapy to work, a transporter, called a vector, is typically used to deliver the healthy copy of the gene into the cell. See how science hopes to leverage these vectors.

“Gene transfer using adeno-associated virus (AAV) vectors has great potential for treating human disease.”– J. Fraser Wright, Ph.D.Chief Technology Officer at Spark Therapeutics and a leader in the field of viral vector–based technology

Creating a viral vector

First: modify the virus.

To create a viral vector, scientists modify a virus by removing its viral genes and replacing those gene with a functioning copy of a gene from the targeted tissue. Once the virus has been modified, it is intended to transport the desired gene to a cell without causing disease.

Next: deliver the gene.

The viral vector is introduced into a specific tissue, for example, that of the retina, where it delivers the functional gene into target cells. Once the cell has received the functional gene, it should address the mutation by producing the necessary protein or stopping production of the harmful protein.

The importance of genetic testing.

Gene therapy’s power lies in specificity. That’s why genetic testing to try and determine the mutation responsible for your vision loss has become so important for anyone with an IRD.

Do you know your mutation?

Knowing your genetic mutation is key to understanding what this exciting research potentially means for you.

Learn about testing

Get genetically tested.

Ready to look for the mutation responsible for your inherited retinal disease? Here's a genetic testing program that may be able to help.

Tell me more

Follow the leaders.

Scientists at Spark Therapeutics are pioneering leaders in the field of gene therapy research. They are dedicated to studying and progressing gene therapy research for inherited diseases through viral vector–based technologies.

 
newsletter-icon.png

Everything is changing.

Our understanding of inherited retinal diseases, and the potential for science to address these conditions, is changing quickly. Sign up to receive news of advances in retinal gene therapy research.