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  • Leber congenital amaurosis (LCA)/Early onset severe retinal dystrophy (EOSRD): for professionals

    LCA/EOSRD form part of a spectrum of inherited retinal dystrophies that cause severe visual loss at an early age. There is now an approved retinal gene therapy called Luxturna for patients with RPE65 mutations.
  • CEP290 gene

  • Gene editing

    Gene editing is a technology that enables scientists to precisely alter human DNA to treat genetic diseases or to study disease mechanisms in more detail by re-creating the genetic mutation of interest in a cell model.
  • RNA therapy

    RNA is involved in protein production from DNA in human cells. Mutations in DNA can be passed down to RNA, and a non-functional protein might be produced. RNA therapies target these "mistakes" in the RNA so that a normal functional protein can be produced instead.

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