CRISPR is the gene-editing tool developed in 2012–a revolutionary feat in science and healthcare. CRISPR uses the Cas9 protein, which is used in the body for defense against bacteria, viruses, and other intruders. Scientists have been able to program the protein, allowing genes to be cut and edited. The technology has since been used and researched in the treatment of various diseases like cancer, autoimmunity, and genetic diseases.
Recently, a baby named KJ Muldoon from Pennsylvania, United States was diagnosed with a rare disorder: carbamoyl-phosphate synthetase 1 deficiency (CPS1). In short, it causes the accumulation of nitrogen, in the form of ammonia, in blood. This is due to mutations in the CPS1 gene, which functions in liver enzymes. This leads to symptoms like vomiting, lack of energy, low body temperature, and weak muscles. The disease is fatal and kills about half of the babies diagnosed with it.
A liver transplant would normally be used to treat CPS1; however, the wait would be too long and the treatment would be far too expensive. As a revolutionary alternative, a never-before used treatment was suggested to KJ’s parents: specialized gene therapy tailor-made for his disease. Hence, a personalized gene editing treatment was developed by the team at Children’s Hospital of Philadelphia and Penn Medicine using CRISPR.
Racing against the clock, doctors developed a special therapy in only around 6 months. Doctors began running trials of the therapy on mice and monkeys. They identified the specific mutations causing KJ’s disease, using a technique called base editing to fix his genetic code. The CRISPR therapy was developed to not only cut the faulty gene, but replace it with the correct DNA “letter”. This treatment came in the form of an infusion, which would reach the liver, penetrate its cells, and fix the genetic mutation. While it’s not a definitive “cure”, the special gene therapy is instrumental both in his treatment and in the field of healthcare, where many rare genetic diseases are overlooked or understudied.
KJ is now the first person to receive such personalized gene-editing treatment, built on decades of genetic research. This revolutionary gene-editing therapy speaks volumes to the promises of innovation in healthcare. CRISPR is expected to be utilized and studied for genetic disorders in the far future. It shows potential not only in CPS1, but other diseases like Parkinson’s and OTC. Doctors and scientists continue to push this life-saving, critical technology forwards as further developments make the future of genetic engineering more prominent everyday.
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