Navigating Life with CRB1
Joseph F. Smith has been legally blind since birth. He lost what little sight he had in his mid-30s, when he learned he had Leber congenital amaurosis (LCA). Thirty years […]
Let’s Chat About … Genetics and Inherited Retinal Disease
You or your loved one just received a clinical diagnosis of Leber congenital amaurosis (LCA), a rare inherited retinal disorder caused by a mutated gene. The disease causes severe vision […]
“Let’s Chat About …” Webinar Provides Insight Into How the FDA Handles Rare Disease Treatments
Researchers and regulators did not miss a single step in the fast-tracked federal process of developing successful COVID-19 vaccines. And the same goes for fast-tracking gene therapies for rare [...]
Raising Awareness by Sharing Rare Disease Stories
Had he received a more definitive rare disease diagnosis in 2003, Alan Gunzburg said he might not have lost so much vision and still might be able to drive. In […]
Working to Create Rare Disease Advisory Councils in all 50 States
Fifteen states done, 35 to go. Fifteen states have established a Rare Disease Advisory Council (RDAC) to give the rare disease community, including those living with Leber congenital amaurosis [...]
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 [...]