An experimental gene therapy based on the prime editing technique could become an effective treatment for alternating hemiplegia of childhood, a severe and currently incurable rare disease. David Liu’s lab at the Broad Institute, the inventor of this gene edition methodology, together with scientists from The Jackson Laboratory, successfully reversed the effects of five mutations associated with this disorder in a mouse model.
An experimental gene therapy based on the prime editing technique could become an effective treatment for alternating hemiplegia of childhood, a severe and currently incurable rare disease. David Liu’s lab at the Broad Institute, the inventor of this gene edition methodology, together with scientists from The Jackson Laboratory, successfully reversed the effects of five mutations associated with this disorder in a mouse model.
The human genome has yielded another round of secrets with the publication of two back-to-back papers in Nature on July 23, 2025. Both studies re-sequenced probands from the open-access 1000 Genomes Project, which was one of the first projects to sequence individuals from diverse populations.
Opus Genetics Inc. has entered a strategic partnership with the Global RDH12 Alliance to advance Opus’ gene therapy program for patients with vision loss due to retinol dehydrogenase 12 (RDH12) gene mutations.
The human genome has yielded another round of secrets with the publication of two back-to-back papers in Nature on July 23, 2025. Both studies re-sequenced probands from the open-access 1000 Genomes Project, which was one of the first projects to sequence individuals from diverse populations. While one paper “goes very deep and tries to reconstruct a few genomes to basically near completion,” the other specifically looked at structural variants in a larger number of genomes. Together, they give new insights into genome variation.
Researchers have identified bi-allelic variants in the POPDC2 gene as the cause of a rare inherited cardiac syndrome characterized by sinus node dysfunction, atrioventricular (AV) conduction defects and hypertrophic cardiomyopathy.
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, is caused by silencing of the Fmr1 gene, leading to a lack of the FMRP protein, which regulates protein synthesis in neurons. One key pathway affected by FMRP loss is the metabotropic glutamate receptor 5 (mGluR5) signaling pathway, where activation of mGluR5 leads to excessive translation of several proteins involved in synaptic plasticity.
The Cystic Fibrosis Foundation has agreed to provide Prime Medicine Inc. an additional investment of up to $24 million to continue the development of a gene editing therapy for people with cystic fibrosis. Prime Medicine uses a gene editing technology called prime editing, which enables a wide range of modifications to the DNA with a high degree of precision.
The U.S. FDA has cleared Aavantgarde Bio Srl’s IND application for AAVB-039, the company’s gene therapy program for Stargardt disease, the most common inherited form of macular degeneration.
FAST kinase domain-containing protein 5 (FASTKD5) is a mitochondrial protein that is needed for processing mRNA in the primary mitochondrial transcript. Several mutations have been found in other proteins involved in mitochondrial metabolism, but mutations in the FASTKD5 gene have not yet been reported.
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