Miracle in Six Months: Custom CRISPR Therapy Saves Infant's Life!

In an unprecedented feat, a personalized CRISPR gene therapy was developed and delivered in just six months.
Infant KJ, facing a life-threatening rare genetic disease, became the first recipient of this revolutionary on-demand treatment.
This landmark case heralds a new dawn for medicine, offering hope for previously untreatable "N-of-1" genetic conditions.

The clock was ticking for baby KJ. Born with an ultra-rare genetic defect, carbamoyl phosphate synthetase 1 (CPS1) deficiency, his tiny body couldn't break down protein, leading to toxic ammonia buildup. With a devastating 50% infant mortality rate, KJ faced a grim prognosis, his name already on the liver transplant list at just five months old. But then, a beacon of hope emerged from the cutting edge of science.

In a stunning display of speed and collaboration, a multi-institutional team, including five researchers from the Innovative Genomics Institute (IGI) at UC Berkeley, achieved what many thought impossible. They developed a personalized CRISPR therapy tailored to KJ's unique mutation and delivered the first dose when he was just over six months old. This wasn't just treatment; it was a race against death, culminating in a historic milestone for genetic medicine^{6, 8}.

"This was a remarkable team effort," stated Nobel laureate Jennifer Doudna, founder of the IGI and a pioneer in CRISPR technology⁵. "The ability to develop an on-demand CRISPR therapy in such a short time opens up a new era."

The challenge was immense. Normally, such therapies take years. But for KJ, and countless others with rare "N-of-1" diseases, years are a luxury they don't have. The team, driven by urgency and years of foundational research—some tracing back to the very discovery of CRISPR as a bacterial immune system^{2, 3}—worked relentlessly, even through holidays. KJ’s specific mutation, a single-letter error, was a perfect candidate for base editing, a precise form of CRISPR.

"My first thought was this is what we’ve been preparing for our entire lives," confessed Fyodor Urnov, IGI Director of Technology & Translation.

Early results are nothing short of miraculous. KJ shows no adverse effects, his symptoms have improved, and his dependence on medication has plummeted. He is now thriving. This triumph, born from the visionary work at institutions like IGI, CHOP, and Penn, and supported by partners like Danaher Corporation, showcases the power of on-demand gene editing⁶.

"This is a landmark moment for CRISPR in medicine, and we can never look back," Urnov declared. The vision? To scale this success "from CRISPR for one to CRISPR for all." For KJ and his family, the future, once clouded by uncertainty, is now bright.

Learn more about the Innovative Genomics Institute at igi.berkeley.edu.

Miracle in Six Months: Custom CRISPR Therapy Saves Infant's Life!

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