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.
What are inherited retinal diseases?
Inherited retinal diseases (IRDs) are a group of rare blinding conditions caused by one of more than 250 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.
“像我们这样有条件的人说要建立一个视觉剪贴簿，把我们的视觉记忆放在我们的大脑里。”
对于一个眼疾恶化的人来说，成为一名有成就的印象派画家并不是最明显的选择，但这是埃里克·哈特曼（Eric Hartman）在过去15年里一直在呼吁的。
A business executive turned artist, Eric was living on Cape Cod in the early 2000s when he began to train in the style of Monet and Degas in 19th-century France. He has been at it ever since. Eric’s art has taken him places near and far – from months-long plein-air immersions in the French countryside, to afternoons with his easel in City Park, in his native New Orleans. Even though his sight has continued to diminish, his zeal to experience and capture the landscapes around him has only grown.
埃里克说：“像我们这样有条件的人说要建立一个视觉剪贴簿，把我们的视觉记忆放在我们的大脑里。”我的艺术做得越多，我就变得越有视觉效果。我对色彩、构图和阴影的感觉使我的眼睛变得很好。”
While art has given Eric a deeper connection to the world around him, the work that Eric has done through the Choroideremia Research Foundation (CRF) has done the same for thousands of people throughout the world with choroideremia.
CRF emerged in the late 1990s to become a leading provider of patient support services for its almost 600 members in 12 countries. CRF has also become a catalyst for scientific research, investing millions of dollars to support academic researchers focused on the condition.
而组织的研究议程的目的是at accelerating potential breakthroughs to preserve or restore sight, it is equally focused on meeting the needs of people living with a condition that can be deeply isolating. Growing up in New Orleans in the 1960s and 70s, Eric, himself, did not meet another person with choroideremia until he was 40 years old, in 1998. When he did, it was an overwhelming experience.
“Suddenly, the struggles I faced on a daily basis were relatable – walking into half-opened doors, losing my place in darkened rooms. I met others who were comrades in arms, and we began learning from each other. It was such a relief that there are people for me to talk with.”
Your inherited retinal disease patient advocacy team
Contact us atpatients@www.cqxywhcm.com
Resources for inherited retinal diseases
Spark’s newest resource Eye Want 2 Know aims to equip those living with an IRD with the knowledge and resources they need to get started with genetic testing. Learn more about the benefits of genetic testing, locate a provider and connect with others in the community.
In order to ensure Eye Want 2 Know is a comprehensive resource for genetic testing for IRDs, Spark Therapeutics also recently unveiled an enhanced ID YOUR IRD® gene testing initiative that tests for variants in approximately 250 genes known to cause IRDs and includes optional genetic counseling, both available at no charge. Learn more about our expanded genetic testing panel and terms and conditions of the program.
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.
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.
Spark, Spark Therapeutics and its design, Eye Want 2 Know, and aSharedVision are registered trademarks of Spark Therapeutics in the United States. All other trademarks are property of their respective owners.© 2019 Spark Therapeutics, Inc.
雷竞技官方
3737 Market Street
Philadelphia, PA 19104
电话：1-855-SPARKTX/+1 215-220-9300
N-UNBD-US-490008-5
