Reacción a "CRISPR used for the first time to treat a rare metabolic disease in a baby"

Since the emergence of CRISPR-Cas technology, progress has been made to develop a variety of tools that have the potential to contribute to the cure of many genetic diseases. This work demonstrates how, by detecting a specific congenital disease in the first days after birth, a robust protocol can be implemented with the ultimate goal of curing, at least partially, a patient with a particular genetic alteration that causes a rare disease. This protocol contains several steps, including i) characterization of the mutation or mutations that cause the disease, ii) design and comparison of the efficiency of various CRISPR-Cas approaches, which in this case are based on base editing and include various Cas proteins with different DNA recognition capabilities, iii) genetic and physiological safety testing of CRISPR-Cas reagents and lipid nanoparticle-based complexes both in vivo and in vitro, and iv) finally, targeted treatment in the patient's liver in two doses seven months after birth, following approval by the relevant agencies.

Although this has been a very specific approach, partly motivated by the devastating nature of the disease, it represents a milestone that demonstrates that these therapies are now a reality. In any case, as the article reports, the patient will be monitored for a long time to ensure his well-being and determine whether additional doses are needed to further improve the symptoms of the disease.

On the other hand, given the risk involved and as the article itself acknowledges, the percentage of gene editing in the patient himself and any possible unwanted edits have not been evaluated, although they were determined in in vivo and in vitro studies. However, based on the physiological results, everything indicates that, at least so far, the therapy has been successful and has significantly improved the patient's quality of life.

In summary, this work is proof of principle for a rapid and effective protocol for CRISPR-Cas therapies for the cure of human diseases in general and so-called rare diseases in particular, opening the door to other similar treatments in the near future.