Michael Kalberer’s Philosophy: Transcend Disability
Born with cerebral palsy (CP), Michael J. Kalberer grew up with a philosophy that has served him well throughout his 43 years. “My parents raised me as an individual with […]
Hope in Focus Ambassadors
Nearly Three Years Later, LUXTURNA®™ Treatments Continue to See Success
Since its launch in March 2018, breakthrough gene therapy LUXTURNA®™ continues to be successful in helping improve vision in people with inherited retinal disease due to mutations in both copies [...]
She Made Canadian Medical History When She Received a ‘Bionic Eye’
Orly Shamir made Canadian medical history when she became the first person in the country to receive a bionic eye. In a clinical trial six years ago, Dr. Robert […]
Rare Disease Day 2020: Lawmakers Hear From Advocates
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 [...]
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 [...]