Through global data sharing and analysis, the nonprofit RARE-X (the research arm of Global Genes) is working to accelerate treatments for rare diseases, including Leber congenital amaurosis (LCA) [...]
Desirae Potts breaks into tears when she recalls the first time a doctor said her infant son James had a disease she’d never heard of – Leber congenital amaurosis, known […]
One woman called doctor after doctor, only to hear they would not treat her and her two rare pediatric conditions because she turned 18 and no longer qualified for help. […]
The 13-member Connecticut Rare Disease Advisory Council (RDAC) is in the middle of its making, with the announcement of its first six members. The council will give patients, families, [...]
Jessi Crawford fancied the clarinet when she played in her middle school band, while classmate Ted Beaman favored the trombone and guitar. Never did they dream their love of music […]
The community of people living with Leber congenital amaurosis caused by mutations in the RDH12 gene moved closer to realizing the shared goal of establishing a clinical trial to find […]
As general manager and vice president of Cardinal Honda in Groton, Conn., Kim Cardinal Piscatelli donates time and money to charities. But when she heard about Hope in Focus and […]
Advocates for people living with rare diseases are collaborating with Connecticut Gov. Ned Lamont’s office and leaders of the Connecticut General Assembly’s Public Health Committee to build the [...]
Data from Editas Medicine’s clinical trial on gene-editing therapy showed meaningful outcomes and improvements to treat a form of Leber congenital amaurosis (LCA). The improvements, though, were [...]
Atsena Therapeutics, a clinical-stage gene therapy company focused on reversing and preventing blindness, has an ongoing Phase 1/2 clinical trial evaluating a potential therapy for Leber [...]