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.
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.
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.
Becoming an accomplished Impressionist-style painter is not the most obvious choice for someone who is facing a deteriorating eye condition, but that has been Eric Hartman’s calling for the past 15 years.
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.
“People with conditions like ours talk of trying to build a visual scrapbook, placing our visual memories in our brain,” Eric said. “The more I have done my art, the more visual I have become. My sense of color, of composition, of shadows have fine-tuned my eye.”
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.
While the organization’s research agenda is aimed 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.”
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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.
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