Rare Retinal Disease Glossary
Achromatopsia: Achromatopsia is a non-progressive and hereditary visual disorder characterized by the absence of color vision, decreased vision, light sensitivity and nystagmus (repetitive and [...]
All About Clinical Trials
Clinical trials are never done in a vacuum, or in a medieval basement where Dr. Frederick Frankenstein (pronounced Fronkensteen), his pretty lab assistant, Inga, and faithful houseboy, Igor, [...]
Rare Disease Advocacy: There’s Power In Numbers
Tell your story. Tell your story again. Then tell it again. That’s the beginning of advocacy for rare disease. “You have to be assertive and speak up. You don’t have […]
Kristen Steele: You’ve Gotta Fight for Your Right …
Kristen Steele knows a thing or two about telling her story and getting what she needs to be her best. The 22-year-old from Council Bluffs, Iowa, is a licensed massage […]
Explosive Growth Seen in Field of Rare Inherited Retinal Disease Research
Advances in genetic sequencing boosted research into rare inherited retinal diseases (IRDs), making a tremendous impact on the number of clinical trials underway for genetic treatments. “There [...]
The Patient Voice: A Critical Piece of the Rare Disease Advocacy Puzzle
Two people deeply involved in patient advocacy and public policy recently urged members of the rare disease community to use their personal experiences as a means of advocating for research […]
Rare Disease Advocacy: ‘Everything’s connected to everything’
Long before Grey’s Anatomy captured television audiences, the 1980s medical drama, Quincy, M.E., helped propel passage of Congressional legislation that fostered the development of more drugs for [...]
Connecticut Rare Disease Day at the Capitol
Sixth-grader Daniela Delgado told Connecticut lawmakers on Rare Disease Day that she lives with rare disease just like 30 million other people in the United States – and just like […]
After Treatment with LUXTURNA, It’s a New Year, New Vision
Two little girls – one on the East Coast and one on the West Coast – ring in this New Year with something they’ve never had before – their vision. […]
The Road to Treatment: Understanding How Therapies Are Developed
Successful clinical drug trials are a cornerstone of U.S. Food and Drug Administration approval, such as with LUXTURNA™, a ground-breaking genetic therapy that helps restore vision in Leber [...]