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  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 […]

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 [...]

The long and sometimes uncompromising road to completing the Human Genome Project (HGP) paved the way for today’s surge in genetic therapy, Dr. Katherine A. High said in her presentation […]

The news is out from our 2019 LCA Family Conference  and it’s terrific! Families living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs) learned at Sofia [...]

Superstar geneticists and a host of retinal doctors, researchers, advocates, industry leaders and patients converge in Philadelphia this weekend when Sofia Sees Hope presents its second LCA [...]