A groundbreaking CRISPR therapy has shown promising results in treating a rare genetic disease, offering hope for patients with life-threatening conditions. The treatment, which was tested on a 10-month-old boy named KJ, successfully corrected his specific mutation and allowed him to eat a full-protein diet again.
CRISPR gene editing is a powerful tool that allows scientists to precisely target and modify the human genome. In this case, researchers used CRISPR base editing to correct KJ’s CPS1 deficiency, a rare genetic disorder that affects only one in 1.3 million babies. The treatment involved administering small doses of the novel gene-editing therapy over two months, which resulted in significant improvements in the boy’s condition.
While the results are promising, researchers acknowledge several challenges that need to be addressed before personalized gene editing can be scaled up and expanded. These include developing treatments that can reach parts of the body other than the liver, where KJ’s mutation occurred, and overcoming economic barriers to make these therapies more accessible.
Despite these challenges, experts believe that CRISPR technology holds great promise for treating rare genetic diseases. With further research and development, it is possible that this therapy could be adapted to correct multiple mutations, reducing the cost and complexity of developing new drugs. As Peter Marks, former head of gene-therapy regulation at the US Food and Drug Administration, notes, “This treatment has the potential to be transformational for the treatment of rare genetic diseases.”
Source: https://www.abc.net.au/news/health/2025-05-28/world-first-crispr-therapy-transform-gene-editing-treatments/105337184