University of Chile Researcher Yields New Data on Gene Therapy (Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences).

A recent study conducted by researchers at the University of Chile has identified four unique genetic variants in three genes that account for 62.7% of early-onset severe retinal dystrophy in Chile. The study utilized panel sequencing and detected 17 genes and 126 variants, with CRB1, LCA5, and RDH12 being the most prevalent. The research highlights the high degree of inbreeding in Chilean families affected by pediatric retinal blindness and emphasizes the importance of these genetic variants for targeted analysis and potential gene therapy-based treatments. This information is valuable for patient counseling, personalized medicine, and future research in this field. [Extracted from the article]

Copyright of Gene Therapy Weekly is the property of NewsRx and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)