The co-occurrence of diseases can inform the underlying network biology of shared and
multifunctional genes and pathways. In addition, comorbidities help to elucidate the effects …

The primary cilium is a ubiquitous microtubule-based organelle that senses external
environment and modulates diverse signaling pathways in different cell types and tissues …

Leber congenital amaurosis type 10 is a severe retinal dystrophy caused by mutations in the
CEP290 gene,. We developed EDIT-101, a candidate genome-editing therapeutic, to …

Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood
blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related …

Stargardt disease is caused by variants in the ABCA4 gene, a significant part of which are
noncanonical splice site (NCSS) variants. In case a gene of interest is not expressed in …

Leber congenital amaurosis type 10 (LCA10) is a severe inherited retinal dystrophy
associated with mutations in CEP290. The deep intronic c. 2991+ 1655A> G mutation in …

Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the
primary cilium cause ciliopathy disorders, with retinal degeneration as a prominent …

Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies,
including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders …

Background Understanding the diversity of repair outcomes after introducing a genomic cut
is essential for realizing the therapeutic potential of genomic editing technologies. Targeted …

Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive
cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common …