On Rare Disease Day, Shining A Light
Lisa Kurec never heard of the National Organization for Rare Disorders (NORD) until Wednesday, but after many years of finding no answers for her son’s rare disease, she decided to attend NORD’s [...]
‘We know how important it is to know your gene. We’ve lived it.’
It took more than seven years to get a genetic diagnosis for our daughter. During that time, doctors were pretty sure she had LCA, although we also heard that maybe she had cone-rod dystrophy or [...]
Living with LCA: ‘Then All Our Dreams Were Realized’
Amy Reif still can’t hold back tears when she recounts first hearing that a ground-breaking genetic-therapy treatment targeting her daughter’s LCA-RPE65 gene officially received approval. [...]
Curing Blindness: The Road To Treatment With LUXTURNA™
This is the first in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who is a candidate for the breakthrough gene-therapy drug called LUXTURNA™, approved as [...]
Sofia Sees Hope Launches Family Connections Program
Sofia Sees Hope has launched a Family Connections program designed to help end the isolation that many feel when they receive a rare inherited retinal disease diagnosis. The Family Connections [...]
CT Rare Disease Day: Patients Must Be Advocates
On Rare Disease Day – Wednesday, February 28 – doctors, researchers, advocates, patients, caregivers, industry representatives and legislators will come together in Connecticut and around the [...]
Sofia Sees Hope Donates $65K to Help Ensure Free Genetic Testing for Inherited Retinal Disease Patients
Ledyard, CT (February 6, 2018) — Sofia Sees Hope, an organization dedicated to finding treatments and cures for blindness caused by inherited retinal diseases (IRDs), is helping to ensure that [...]
#KnowYourGene For International Rare Disease Day
Sofia Sees Hope launches International Rare Disease Day February campaign — ‘Get Tested, Get Connected’ — to encourage those diagnosed with rare inherited retinal diseases to receive genetic [...]
#KnowYourGene: AGTC Working On Multiple IRD Treatments
Applied Genetic Technologies Corporation (AGTC), a clinical stage biotech company that focuses on rare inherited retinal diseases (IRDs), develops therapies that replace “broken” genes with [...]