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 later, genetic testing [...]
Early research into a form of Leber congenital amaurosis (LCA) caused by mutations in the CRB1 gene – including the discovery of a new version of a protein expressed by the gene – shows [...]
Amid the intricacies of researching treatments and cures for rare diseases, such as Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), the patient remains the major [...]
Welcome to the Sofia Sees Hope Scavenger Hunt! We are glad to meet you. We are doing this to continue to raise awareness for rare inherited retinal disease and Leber congenital amaurosis, which [...]
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 loss at [...]
Promising gene therapy research – characterized as having a good potential to restore vision – is underway to help visual impairment caused by a form of Leber congenital amaurosis (LCA) [...]
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 [...]
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 2016 – 13 years after his initial [...]
15 states with an established Rare Disease Advisory Council: Alabama, Kentucky, Illinois, Massachusetts, Minnesota, Missouri, Nevada, New Hampshire, New York, North Carolina, Ohio, Pennsylvania, [...]
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 [...]
