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 [...]
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 [...]
