Using the method of saturation genome editing (SGE), researchers have assessed the functional impact of 99% of all possible single nucleotide variants in the coding sequence of the BAP1 gene. SGE [...]
Researchers pharmacologically reactivated transcription of the TERT gene and produced a rejuvenating effect in multiple tissues in mice. In a study published in Cell, the authors used a [...]
A CRISPR/Cas9-based approach to treat CEP290-associated inherited retinal degeneration has for the first time produced positive results in a phase 1/2 study. Twelve adults and two children with a [...]
A novel gene therapy approach using antisense oligonucleotides to modulate the production of specific isoforms of CACNA1C might provide a new strategy to treat a severe neurodevelopmental [...]
A gene therapy approach involving transfer of the GAN gene into nerve cells is presently being investigated as a potential option for addressing a rare neurodegenerative condition in children. [...]
KDM5C plays a pivotal role in the complex process of neuron formation. A study published in Nature now shows that KDM5C acts in a specific developmental window directly on WNT signaling and thus [...]
A postzygotic variant in FGFR2 has been identified as the cause of a mosaic neurocutaneous disorder. Researchers at the Institute of Human Genetics Göttingen uncovered the variant as the [...]
Identification of biallelic variants in the CCR2 gene and subsequent functional investigations revealed a previously undescribed mechanism leading to a complex and progressive lung disease. An [...]
Based on the identification of pathogenic de novo missense variants of U2AF2 in patients with neurodevelopmental disorders (NDDs), an international team of researchers gained novel insights into [...]
Using a novel filtering approach in the analysis of whole-genome sequencing data, researchers identified ultra-rare disease-associated variants in the SMAD4 gene. In their study published in the [...]
