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Rare disease patients, caregivers, advocates, researchers, doctors, healthcare providers and lawmakers gathered at Connecticut’s capitol in Hartford on Friday, Feb. 28, to celebrate Rare Disease [...]

  The end of February signals the time to focus awareness on rare conditions by celebrating Rare Disease Day, a global event addressing the thousands of rare diseases that affect […]

By Damiana Harper I was born in 1976 in Spokane, Washington. By the time I was born, my parents’ relationship was basically over, so I was raised by a single […]

  When our daughter Sofia was 2, we knew something was wrong with her vision. By the time she was 5, doctors told us she perhaps had Leber congenital amaurosis, […]

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, [...]

Theodor Karl Gustav von Leber would be proud. So would Adolphe Franceschetti and Carl-Henry Alström.  Their research from the 19th and 20th centuries laid the foundation for groundbreaking gene [...]

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 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 […]

Known as a pioneer in gene therapy, Jean Bennett, MD, PhD, surveyed her audience of patients and families living with Leber congenital amaurosis and declared: “YOU are all the pioneers!” […]

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 [...]