GENOME-BASED THERAPEUTIC STRATEGIES TARGETING RARE DISEASES THROUGH PRECISION EDITING AND DELIVERY SYSTEMS

Abstract

Background: Rare diseases have a small percentage of the population but when combined, the global health burden attributed to them is high, with many of them not having effective treatment and management. Traditional medicines do not reach the genetic roots of the problem, which makes it crucial to find accurate and long-lasting therapies.

Objective: This paper will assess the use of genome-based therapeutic approaches based on precision gene editing and state-of-the-art delivery technologies to treat rare genetic diseases.

Methodology: A systematic survey of currently emerging preclinical and clinical literature (20202026) was performed, emphasizing the CRISPR-Cas9, base editing and prime editing platforms. Among the most relevant parameters evaluated were the editing efficiency, delivery performance, specificity and therapeutic outcomes in both in vivo and ex vivo models.

Findings: CRISPR-Cas9 showed excellent editing efficiencies (7090 percent) in ex vivo systems, whereas base editing was precise in nucleotide modification with reduced off focal impacts (Less than 2 percent). Prime editing demonstrated broad mutation repair capacities with efficiencies of 25-60. Viral delivery systems had high transduction efficiency and non-viral methods had better safety profiles. There was a deal of improvement in the phenotype of diseases like spinal muscular atrophy and hemophilia.

Conclusion: Genome-based precision therapies are potentially transformative in rare diseases, as they provide the opportunity to target and effectively fix genetic abnormalities. Even more development in editing technologies and delivery systems is needed towards safe and scalable clinical translation.