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Researchers from Radboud University Medical Center in the Netherlands have developed a personalized treatment approach using antisense oligonucleotides (AONs) to rescue aberrant splicing caused by an ultrarare ABCA4 variant in a child with early-onset Stargardt disease. Stargardt disease is a rare genetic condition characterized by macular degeneration. The researchers designed AONs to block the insertion of pseudoexons into the final transcript, and their study demonstrated successful splicing rescue in vitro models. This research provides a foundation for a personalized N-of-1 AON-based treatment to prevent early vision loss in this patient. [Extracted from the article]

A recent study conducted at Radboud University Medical Center in the Netherlands has provided new insights into lentivirus and its association with Stargardt disease, an autosomal recessive macular dystrophy that causes central vision loss. The researchers generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a patient with Stargardt disease, which showed pluripotent features after the reprogramming process. This iPSC line will be used to differentiate into relevant retinal-like cell models to evaluate the effects of the ABCA4 variants associated with Stargardt disease. The study was supported by various organizations, including the Foundation Fighting Blindness Inc. and the European Union. [Extracted from the article]

The article discusses research from Radboud University Nijmegen in the Netherlands which demonstrated the correction of pseudoexon inclusion splicing defect caused by a recurrent gene variant in ABCA4 (C.769-784c>t) that underlies Stargardt disease by using nine antisense oligonucleotides.