KJ's Miracle battle with CPS1
BIOL-2110-001 - GENETICS
Professor Guy F. Barbato
October 16, 2025
When ammonia builds up in the bloodstream, it can be fatal for people of all ages. One rare genetic disorder that causes an excess of ammonia to accumulate, sometimes reaching the brain, is CPS1 deficiency. This condition affects about one in 1.3 million babies and often leads to death or severe developmental delays. One special case, that could now result in saving many lives, was a boy named KJ.
An article I read by Gina Kolata expresses KJ's story in grand detail. From the New York Times this article was called "Baby Is Healed With World’s First Personalized Gene-Editing Treatment." This article shows how far genetics has come, for scientists were able to identify KJ’s exact DNA mutation and create a CRISPR vaccine just for him. It’s incredible how gene editing can target a single letter in someone’s DNA and correct the error that caused their illness. I think it’s amazing that scientists were able to develop a brand-new treatment so quickly, but it also makes me wonder how something this big can happen so suddenly. It feels strange that a cure for such a serious condition could come together in what seems like just a few months, but it really shows how unpredictable and fast-moving the science world can be.
The process of creating KJ’s treatment was careful and intense. Normally, developing a new genetic therapy takes years, but as one researcher said, “David Liu of Harvard, whose lab invented the gene-editing method used to fix KJ’s mutation, said the speed was “astounding.” These steps traditionally take the better part of a decade, if not longer” (Kolata, 2025). This quote stood out to me because it shows how unusual and fast this discovery really was. Once the gene-editing solution was approved by the F.D.A., the team moved quickly, even though they weren’t sure if it would work. I also wanted to see while reading this article what one of the main focuses of solving this research was. I found another article going more n depth about the research the scientists did for KJ and a quote from the article, "World's First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia" shares some main points. "Ahrens-Nicklas and Musunuru decided to focus on urea cycle disorders. During the normal breakdown of proteins in the body, ammonia is naturally produced. Typically, our bodies know to convert the ammonia to urea and then excrete that urea through urination. However, a child with a urea cycle disorder lacks an enzyme in the liver needed to convert ammonia to urea" (Chop EDU 2025). Years of research has gone into this one treatment for KJ and it has been such a breakthrough for genetics.
While it is still too early to know if KJ will be completely free of medication or avoid a liver transplant, his condition has improved dramatically. This case highlights the incredible power of genetics to target and correct specific DNA mutations, and it demonstrates how decades of basic research and federal funding made this breakthrough possible. KJ’s story not only represents a medical milestone but also shows how genetics can transform lives.
References
Chop EDU (2025, May 15). World's First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia. Children's Hospital of Philadelphia. Retrieved October 16, 2025, from https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?searchResultPosition=1
Kolata, G. (2025, May 15). Baby Is Healed With World’s First Personalized Gene-Editing Treatment. New York Times. Retrieved October 16, 2025, from https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?searchResultPosition=1
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