Our Commitment to Inherited Retinal Diseases (IRDs)

A range of inherited retinal diseases (IRDs) are core targets for us as we strive to turn genes into medicines for patients with inherited genetic diseases. We are proud members of the global IRD community, dedicated to developing patient-focused initiatives, from clinical research and educational programs, to programs designed to increase access to genetic screening for people with IRDs.

VIEW OUR INVESTIGATIONAL GENE THERAPY RESEARCH PROGRAMS

What are inherited retinal diseases?

Inherited retinal diseases (IRDs) are a group of rare blinding conditions caused by one of more than 220 different genes. Some people living with IRDs experience a gradual loss of vision, eventually leading to complete blindness. Others may be born with or experience vision loss in infancy or early childhood. Obtaining a confirmed genetic diagnosis through genetic testing is the only way to verify the exact gene mutation that is the underlying cause of an IRD.

Gene therapy research

Gene therapy research is an investigational approach to treat or prevent genetic disease. This research is showing exciting potential for patients with inherited retinal diseases.

When Qudsiya describes her experience with an RPE65- mediated form of blindness, she invariably focuses on the positive.
Qudsiya, living with an inherited retinal disease due to an RPE65 genetic mutation

Your inherited retinal disease community contact

Amy Fisher
Patient Advocacy Lead

“With my background as a genetic counselor, it is an extraordinary opportunity to work in a patient advocacy position in a company dedicated to bringing gene therapy to rare disease patients.”

patients@sparktx.com

Resources for inherited retinal diseases

A shared vision

Spark Therapeutics sponsors aSharedVision, where the IRD community can stay informed about retinal gene therapy research, read stories from community members, access advocacy resources and learn about the importance of genetic testing.

Spark Therapeutics has developed ID YOUR IRD, or IDentify YOUR Inherited Retinal Disease for patients in the U.S. Participating physicians determine patients’ eligibility and send test samples to an independent lab, which processes the sample and delivers test results that may identify the specific gene mutation(s) causing the IRD. This information may help determine the best course of action for the patient. Subject to the initiative’s terms and conditions, eligible patients receive the genetic test offered by ID YOUR IRD, as well as confidential telephone consultation sessions with independent genetic counselors, at no cost to patients. We are also working to support access to genetic testing in South America and Europe.

Additionally, we work with advocacy groups from around the world to help connect patients and families to education, research, support services and each other. Below, please find a partial listing of several groups from the IRD advocacy community.

American Council of the Blind (ACB)
American Council of the Blind (ACB)
http://acb.org
Guide Dogs for the Blind
Guide Dogs for the Blind
http://guidedogs.com
American Foundation for the Blind (AFB)
American Foundation for the Blind (AFB)
http://afb.org
APNES (Argentina)
APNES (Argentina)
http://stargardt.com.ar
RDH12 Fund for Sight
RDH12 Fund for Sight
http://rdh12.org
Choroideremia Research Foundation
Choroideremia Research Foundation
http://curechm.org
Curing Retinal Blindness
Curing Retinal Blindness
http://crb1.org
Fighting Blindness
Fighting Blindness
http://fightingblindness.ie
Sofia Sees Hope
Sofia Sees Hope
http://sofiasees.org
Foundation Fighting Blindness
Foundation Fighting Blindness
http://blindness.org
Usher Syndrome Coalition
Usher Syndrome Coalition
http://usher-syndrome.org
Foundation Fighting Blindness Canada
Foundation Fighting Blindness Canada
http://ffb.ca
VisionServe Alliance
VisionServe Alliance
http://visionservealliance.org
Fundación Argentina de Retinosis Pigmentaria
Fundación Argentina de Retinosis Pigmentaria
http://retinosis.org.ar
WonderBaby Blog
WonderBaby Blog
http://wonderbaby.org