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 www.IDYidyourirdIRD.com.)
“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 www.IDYourIRD.com 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.