A recent report in the New England Journal of Medicine, “Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease,” recounts a recent breakthrough in personalized medicine, achieved through gene editing via CRISPR.
CRISPR, a genetic system used in bacteria to protect against viruses, has been re-engineered as a general gene-editing technology. It has already been used for in vitro therapies for sickle cell disease and thalassemia. In these treatments, bone marrow is removed from the patient, altered in the laboratory using CRISPR, then returned to the patient’s body. These therapies were not specific to the individual patients—they were general treatments capable of acting on the diseases overall.
But the recent case of a baby born with an extremely rare mutation, affecting an enzyme needed for removing ammonia from the blood, shows the potential of this technology for individual cases.
In just six months, a bespoke CRISPR application specific to the infant’s genetic mutation was developed. Lipid nanoparticles were used to guide the CRISPR to the infant’s liver cells.
As a result of the three infusions, the infant has been able to increase his protein intake, and the drug he takes to help remove ammonia has been cut in half. The long-term success of the therapy is yet to be seen, and it is not clear how often the CRISPR infusions will be needed.
According to Steven Novella in an article published by Science-Based Medicine, the breakthrough would not have been possible without federal funding of medical research. Basic research for the treatment was conducted by the Somatic Cell Genome Editing Consortium, which is funded by the National Institutes of Health (NIH).
While the NIH is among those U.S. institutions subject to large and often arbitrary or even vindictive cuts to scientific research funding, the enormous potential that individualized gene therapy offers to the millions of people with individual genetic mutations is cause for optimism about mankind’s power to discover principles of nature and apply them to better our conditions.
