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

This is the first case of a fully customised therapy, for a single baby (what is called ‘n of 1 therapy’), treated in vivo with a base-editing therapy for a very severe ultrarare disease. The disease causes the accumulation of ammonium, which is highly toxic to neurons and can lead to death in the first months of life. With the help of several leading biotech companies, a novel and very precise strategy has been designed to uniquely modify the mutated nucleotide in the gene to reverse the effect, and instead of a truncated protein, produce the complete protein. In addition, instead of using therapeutic viruses, lipid particles have been used to deliver the gene-editing system to the liver, in three doses within weeks of each other, avoiding an unwanted immune response and achieving remission of the most dangerous symptoms, reducing palliative medication and allowing incorporation of a normal diet.

It is truly a unique case, a successful proof of concept, designed and applied in record time, in which researchers and clinicians have not skipped a single preclinical step, as they have generated human cellular models and also a humanised mouse model with the patient's mutation to test the safety of the dose and the efficiency of the therapeutic strategy. In addition, they have had all the approvals from the relevant bioethics committees. It seems to me to be a scientific ‘miracle’ that has made it possible to cure a very rare severe disease, and provides knowledge to treat many other diseases.