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ID Your IRD: A Free Genetic Testing Program for Eligible People with Inherited Retinal Diseases

Genes are like the blueprint or code for determining who we are. We all have about 23,000 pairs of genes in most cells in our bodies. Many of our physical attributes — such as height, eye and hair color, and complexion — are determined by our genes.

However, certain misspellings, also known as mutations, in our genetic code can cause diseases or increase our risk for them. In fact, inherited retinal diseases are caused by mutations in single genes.

If you or a loved one has an IRD, knowing the mutated gene causing the condition is a critical step toward getting help. Identifying the mutation(s) confirms the diagnosis and may help individuals and physicians address health issues related to that/those mutation(s).

In other words, by understanding the genetic basis of your IRD, you are better positioned to manage it.

The ID Your IRD genetic testing initiative, launched by Spark Therapeutics, provides access to free genetic testing for people (U.S. residents), subject to the terms and conditions of the initiative, with certain IRDs including: Leber congenital amaurosis, retinitis pigmentosa, and choroideremia. (The full terms and conditions of the initiative, as well as a complete list of diseases for which testing is available, can be found at

“We are excited that Spark has launched its no-cost, retinal-disease, genetic-testing initiative,” says Stephen Rose PhD, chief research officer, Foundation Fighting Blindness. “The initiative provides eligible patients and families with access to a service that can greatly help them deal with their challenging retinal conditions. And, with more clinical trials underway and on the horizon, genetic diagnoses will help position patients to get involved in advancing the research and taking part in these studies.”

Go to to download a guide that provides information about the initiative and genetic testing. You can also complete a contact form to submit questions and request additional information.

If you qualify for the initiative, your doctor will send your saliva or blood sample off to a laboratory for testing. You will also be put in touch with a genetic counselor to help you understand the testing process and what the results mean for you and your family.

Spark Therapeutics, a fully integrated company, strives to challenge the inevitability of genetic disease by discovering, developing, and delivering gene therapies that address inherited retinal diseases (IRDs), neurodegenerative diseases, as well as diseases that can be addressed by targeting the liver.

Spark Therapeutics was a sponsor the fourth annual Retinal Cell and Gene Therapy Innovation Summit in Baltimore on May 4–5, 2017. The Foundation Fighting Blindness and the Casey Eye Institute at Oregon Health & Science University co-hosted the summit, which featured presentations by the retinal disease field’s leading experts on potential gene and stem-cell therapies and how best to deliver them to patients.

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11 Responses to 'ID Your IRD: A Free Genetic Testing Program for Eligible People with Inherited Retinal Diseases'

  1. David Quan says:

    How can I get help with a diagnosed Congenital Retinal Disease problem?

    • Dr. Tim Schoen says:

      Dear David, The first step is to see a retinal specialist that can provide you with a specific diagnosis. With this information, you can look on PubMed to see what research is being done. You can also look on clinical to see what trials are being conducted.

  2. Prakash Naik says:

    My cousin in India she has problem looking very little we have all doctors report. Can u please help her with GENE THERAPY.

  3. Linda Stirrett says:

    Is this free genetic testing available to test for a Canadian adult with suspected Lebers Congenital Amaurosis?

  4. Amaris Davila says:

    i am trying to get a genetics test done because i go to uci retina doctor and they are currently unsure what type of retina disease but unsure what one since i have an godfather who has retina pigmatoses the would like me to get a genetics test done.

  5. Linda Chappell says:

    I have 2 recessive mutated genes connected to my RP. How does that effect my 4 children and 13 grandchildren?

    • EyeOnTheCure says:

      Hi Linda,

      The short answer is: Your children and grandchildren may be carriers, but it is unlikely they will get the disease. We suggest talking to a genetic counselor for more information about your family’s risks.

  6. Farzana Qanit says:

    Hello my name is Farzana Qanit I am contacting from Virginia I tested at NIH hospital gene test my results came and my gene is PDE6A Off there is any treatment for that gene because I have RP please contact me at

    Thank you and have a great day.

    • EyeOnTheCure says:

      Hi Farzana, we would recommend checking out to search for trials recruiting for your genetic mutation. Once you find a trial, scroll down to the Contacts section and either email or call the location you’d like to participate. Good luck!

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