KJ's Miracle battle with CPS1

                                    

 

                                 KJ's Miracle battle with CPS1

Kylee French

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 

        

Gene That Could Lower HIV Levels In People Of African Descent

Some people of African descent tend to have a lower HIV viral load and a newly discovered gene might be the reason why. A viral load is the amount of infection in a persons system and it can vary due to a variety of different reasons and one of them being genetics. Given that Africa was hit the hardest with HIV infections, research was done analyzing the DNA of almost 4,000 individuals living with HIV-1 which is the most common type HIV. It was discovered that a region within chromosome 1 contained the gene CHD1L, which was associated with the reduced viral load of those who carry the virus. Although it is not yet clear how CHD1L is used in lowering the viral load, it is known to play a role in repairing damaged DNA. Researches created immune cells in which the CHD1L gene is switched off and discovered that HIV tends to attack those immune cells and it replicated more efficiently in an immune cells called a microphage when the CHD1L gene was again switched off. Since there is still a million new infections a year and with no cure, the next step in helping control HIV is to learn how this genetic variation helps in reducing the HIV viral load. 

Through Gene Editing, A Cure for Heart Disease Showed Successful Results in Monkeys

Gene (or genome) editing is defined as, “the manipulation of the genetic material of a living organism by deleting, replacing, or inserting a DNA sequence, typically with the aim of improving a crop or farmed animal, or correcting a genetic disorder.” Gene editing technologies were first developed in the 1900s but it was CRISPR’s introduction to the scientific community in 2009 that made gene editing more easily accessible; CRISPR is now used by most scientists involved in gene editing as it’s simpler, faster, cheaper, and more accurate than older gene editing methods. Adapted from a naturally occurring genome editing system in bacteria, CRISPR has now been used for a variety of research purposes.






(Image above: opportunities and challenges of genome editing)

A precision drug for prostate cancer may slow the disease’s spread

 

Links:
Article: https://www.sciencenews.org/article/prostate-cancer-drug-olaparib-slow-spread
Related Article: https://www.google.com/amp/s/www.bbc.com/news/amp/health-49877843


Recently, researchers have discovered that a drug used to treat breast and ovarian cancers is also tied to certain genetic mutations that may help combat some of the most severe cases of prostate cancer.
Researchers tested the drug, called olaparib, in a randomized clinical trial of nearly 400 men with advanced prostate cancer and a mutation in one of several genes involved in repairing damaged DNA, such as BRCA1 and BRCA2. 
Overall in men given olaparib, the disease progressed more slowly compared with those on standard treatment drugs that deprive cancer cells of the male hormone testosterone. After a year, about 22 percent of men taking olaparib had no signs that their cancer was progressing, compared with 13.5 percent of men on the standard treatments, the researchers reported September 30 in Barcelona at the European Society of Medical Oncology meeting.

This was a very interesting article to read. Although it is too early to say how the drug will impact overall survival , this new treatment looks promising so far, potentially buying some patients a few more months