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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 [...]

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 [...]

In the debut of Sofia Sees Hope’s ‘Let’s Chat About …’ monthly webinar series, Ben Shaberman of the Foundation Fighting Blindness, provided his Zoom audience with a plethora of information [...]