Researchers have successfully treated a life-threatening genetic disease using a personalized CRISPR-based therapy, marking a historic milestone in precision medicine.
A Medical First: CRISPR Saves a Baby’s Life
In a groundbreaking medical achievement, a research team from the Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania (Penn) has developed and delivered the first-ever personalized gene-editing therapy to treat an infant with a rare, fatal genetic disorder. The child, diagnosed with carbamoyl phosphate synthetase 1 (CPS1) deficiency, responded positively to the treatment, offering hope for future cures for similar conditions.
The entire process—from diagnosis to treatment—took just six months, demonstrating the potential for rapid, customized gene therapies to save lives. This milestone also opens the door for treating hundreds of other genetic disorders using the same platform.
What Is CPS1 Deficiency?
CPS1 deficiency is an ultra-rare metabolic disorder that prevents the liver from properly breaking down protein byproducts, leading to toxic ammonia buildup in the body. Without treatment, the condition can cause:
- Severe brain damage
- Liver failure
- Coma or death
Current treatments involve a strict low-protein diet and medications to manage ammonia levels until a liver transplant can be performed. However, even with careful management, infections or other stressors can trigger sudden, life-threatening ammonia spikes.
How CRISPR Was Used to Treat the Disorder
The research team, led by Dr. Kiran Musunuru (Penn) and Dr. Rebecca Ahrens-Nicklas (CHOP), used CRISPR gene editing to correct the specific mutation causing CPS1 deficiency in the baby’s liver cells.
Key Steps in the Treatment Process:
- Rapid Diagnosis & Custom Therapy Design
- The infant was diagnosed shortly after birth.
- Researchers identified the exact genetic mutation responsible.
- A personalized CRISPR-based therapy was designed within months.
- Safe, Controlled Delivery
- The therapy was delivered in two doses—first a low, safe dose, then a higher one.
- The method allowed for repeat treatments if needed.
- Positive Early Results
- The baby began tolerating more protein in their diet.
- Doctors reduced the medications needed to control ammonia levels.
- Even when the child later caught a cold and a gastrointestinal illness—normally dangerous for CPS1 patients—their body handled the infections without complications.
This landmark case proves that personalized CRISPR therapies can work in humans—and work quickly. For families facing rare genetic disorders, this breakthrough offers real hope for future cures. As research continues, the medical community is one step closer to making tailored gene editing a standard treatment for previously incurable diseases.
Dr. Joni L. Rutter, director of NIH’s National Center for Advancing Translational Sciences (NCATS), emphasized:
“Gene editing promises a new era of precision medicine for hundreds of rare diseases, bringing life-changing therapies to patients when timing matters most: Early, fast, and tailored to the individual.”