Accelerated molecular characterization of rare disease cases and the advent of clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) technology promise to enable rapid therapy development for many rare genetic diseases.

The adoption of editing technology reduces the time from conception to evaluation of advanced therapy approaches compared to gene addition, encouraging an unprecedented number of research groups and studies to focus on rare diseases.

As CRISPR/Cas-based tools are customized to tackle rare diseases in clever ways, the results reveal and help address remaining unknowns and obstacles in the clinical translation of the new technology, including those concerning efficiency, specificity, delivery, immunity, preservation of stemness, and avoiding malignant transformation.