Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

Inherited retinal diseases (IRDs) have been in the front line of gene therapy development for
the last decade, providing a useful platform to test novel therapeutic approaches. More than …

Mutations in the ubiquitously expressed pre-mRNA processing factor (PRPF) 31 gene, one
of the most common causes of dominant form of Retinitis Pigmentosa (RP), lead to a retina …

Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa, an untreatable form of
blindness. Gene therapy is a promising treatment for PRPF31-retinitis pigmentosa, however …

Alternative Splicing (AS) programs serve as instructive signals of cell type specificity,
particularly within the brain, which comprises dozens of molecularly and functionally distinct …

Inherited retinal degenerations (IRDs) are a leading cause of blindness. Although gene-
supplementation therapies have been developed, they are only available for a small …

Dysfunction of splicing factors often result in abnormal cell differentiation and apoptosis,
especially in neural tissues. Mutations in pre-mRNAs processing factor 31 (PRPF31) cause …

Mutations in pre-mRNA processing factor 31 cause autosomal dominant retinitis pigmentosa
(PRPF31-RP), for which there is currently no efficient treatment, making this disease a prime …

The rapid evolution of two technologies has greatly transformed the basic, translational, and
clinical research in the mammalian retina. One is the retinal organoid (RO) technology …