The Scientist

Correcting the Mutation Behind a Genetic Eye Disease

Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...
BioWorld

Dual AAV vectors enable precise gene correction for Stargardt disease in preclinical models

Stargardt disease, the most common form of juvenile macular degeneration, results from biallelic mutations in the ABCA4 gene. In a recently published study, researchers at the Institute of Molecular ...
BioWorld

Vigeneron’s mRNA trans-splicing gene therapy for Stargardt disease receives IND clearance

Vigeneron GmbH has received IND approval from the FDA for VG-801, a novel mRNA trans-splicing gene therapy to treat Stargardt disease and other retinal dystrophies associated with mutations in the ...
Nature

AI cancer driver mutation predictions are valid in real-world data

We first tested the utility of VEPs in discriminating literature-confirmed or hotspot pathogenic somatic missense variants from benign ones. OncoKB-annotated pathogenic variants in the AACR Project ...
Nature

Maternal age enhances purifying selection on pathogenic mutations in complex I genes of mammalian mtDNA

Mitochondrial diseases, caused mainly by pathogenic mitochondrial DNA (mtDNA) mutations, pose major challenges due to the lack of effective treatments. Investigating the patterns of maternal ...
GEN

Base Editing Corrects Pathogenic Mitochondria DNA in Patient-Derived Models

In a step toward treating mitochondrial diseases, researchers at the University Medical Center Utrecht and their colleagues have used mitochondrial base editing (mtBE) to successfully edit harmful ...