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, ...
ascopubs.org

AlphaMissense for Identifying Pathogenic Missense Mutations in DNA Damage Repair Genes in Cancer

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...
Business Insider

AAVantgarde Announces FDA Orphan Drug Designation and UK CTA approval for AAVB-039 for the Treatment of Stargardt Disease

AAVB-039 addresses the root cause of the disease, benefitting patients with any ABCA4 mutation AAVB-039 is currently being assessed in the CELESTE interventional clinical trial and we continue ...
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 ...
News Medical

Study identifies potential gain of function mutation in retinoblastoma

A new research paper was published in Volume 16 of Genes & Cancer on January 20, 2025, entitled, "Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation." ...