Retinal gene therapy

New research.

Pioneering research brings hope at a molecular level.


The potential of gene therapy research. What’s next?

Researchers around the globe are conducting clinical trials to study the potential of gene therapy across many different disease areas. What makes this pioneering science exciting for the inherited retinal diseases (IRD) community is that many of the innovators behind this research are targeting IRDs. 

Currently, scientists at The Children’s Hospital of Philadelphia (CHOP), the University of Pennsylvania, and Spark Therapeutics are investigating ways to treat the root cause of inherited retinal diseases with gene therapy. 


Find the needle. Forget the haystack.

Thanks to the Human Genome Project, researchers can now locate—out of 20,500 genes—those genes responsible for causing some forms of inherited blindness.1

"Amazingly, hundreds of genes are required to have effective eyesight. There's a great deal of research going on to try to develop gene therapy for a number of retinal-degenerative disorders." – Katherine A. High, M.D. President & CSO, Spark Therapeutics


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.


What is gene therapy? 

The goal of gene therapy is to treat an inherited disease at its root. If you were born with an inherited retinal disease, that means you have received a gene from one or both of your parents that has an anomaly, a mutation. 

While there is currently no approved gene therapy product for IRDs, researchers are striving to develop gene therapy treatments that would deliver a functioning copy of one specific mutated gene directly to the retina. The hypothesis is that once the body has this functioning copy of the gene, it will begin to use that gene to produce the necessary protein for slowing the progression of disease, or possibly restoring function in the retinal cells.


“Retinal gene therapy research shows great potential to, one day, address inherited retinal diseases that currently have no treatment options. It is a very exciting time for patients and families, scientists and clinicians.” – Daniel C. Chung, D.O. Clinical Ophthalmic Lead, Spark Therapeutics


Delivering a functioning gene.

The process by which researchers may be able to deliver a functioning gene to a patient’s retinal cells is science of the highest order. The method under investigation actually relies on the nature of a common virus. 

The mechanics of gene therapy:


“Results in clinical trials continue to support the great potential of adeno-associated virus-based vectors for the delivery of therapeutic DNA to treat serious human diseases.” – J. Fraser Wright, Ph.D. Chief Technology Officer, Spark Therapeutics

A shared commitment.

Researchers advancing the science of gene therapy have a profound commitment to those living with rare genetic disorders, and are working hard to reach dramatic goals in this innovative field of medical research. Meet three leaders who have dedicated their lives to progressing this pioneering science.

Get the test.

Gene therapy’s power lies in specificity. Only when researchers know exactly which gene is causing a patient’s inherited retinal disease can they begin to solve for the solution. The takeaway? Knowing your genetic mutation is key to understanding what this exciting research potentially means for you. 



  1. All About the Human Genome Project. (2015, October). Retrieved January 05, 2016, from