Gene Therapies For Rare Diseases: Advances In Platforms, Modalities, And Delivery Systems

Gene therapy is transforming the treatment landscape for rare diseases by addressing their genetic roots rather than merely managing symptoms. Here, we examine the rapid evolution of gene therapy across three key dimensions: editing platforms, delivery modalities, and delivery vehicles. Advances in gene addition, CRISPR-Cas9, base editing, and emerging prime editing technologies are expanding therapeutic possibilities, allowing precise correction of disease-causing mutations.

The choice of delivery approach—ex vivo versus in vivo—remains central to therapeutic design, influencing everything from patient accessibility to manufacturing complexity. Approved therapies such as Luxturna, Zolgensma, and Casgevy demonstrate how these innovations can yield one-time treatments with long-term benefits. As editing tools grow more precise and delivery systems more efficient, gene therapies are poised to extend beyond monogenic conditions to complex, multi-organ disorders. The convergence of these technologies marks a new era in rare disease treatment—one defined by precision, scalability, and the potential for true genetic cures.