Last May, the case of baby KJ made headlines: the child, suffering from a severe metabolic disorder, received a therapy developed specifically for him in just six months. The rapid improvement in his condition and his discharge from the hospital left the rare disease community with a pressing question: was this an unrepeatable one-off, or a replicable model of intervention? The right answer might be the latter, as demonstrated by the launch of the Center for Pediatric CRISPR Cures in California. This new center, to be led by Fyodor Urnov, begins with the mission of developing customized genome-editing treatments for eight young patients with congenital metabolic and immune system disorders.

Behind this new initiative are two leading figures: Jennifer Doudna, a Nobel laureate who co-invented CRISPR and founder of the Innovative Genomics Institute (IGI), and Priscilla Chan, pediatrician and co-founder of the Chan Zuckerberg Initiative (CZI). They share the goal of transforming gene editing from an experimental therapy into a standard of care for rare genetic diseases.

The treatment that saved baby KJ (last name Muldoon) was developed in collaboration with the Children’s Hospital of Philadelphia and published in the New England Journal of Medicine. Its success, though still preliminary, is concrete proof of what science can achieve when all the right ingredients come together: a strong, shared determination among people with the resources and partnerships to rapidly mobilize skills, technology, and infrastructure. What astonished experts wasn’t just the therapy itself—a base-editing system delivered in vivo via lipid nanoparticles to fix a mutation preventing the child from metabolizing proteins—but rather the timeline. His genome was sequenced shortly after birth; in rapid succession came in vitro experiments and studies in two animal models, clinical-grade production of the treatment, FDA authorization, and a three-dose administration. Everything happened at lightning speed.

It’s on the heels of this record-setting performance that the new center was established, backed by an initial $20 million investment from CZI and bolstered by a deep reservoir of specialized expertise from both UC Berkeley and UC San Francisco (for now, the Philadelphia hospital where KJ was treated is not part of the project). Another key asset is collaboration with companies in the Danaher group, which produced the components of KJ’s therapy and will remain integral to the manufacturing pipeline.

The first step will be to select eight children with severe metabolic or immune system disorders that can be addressed through base editing. The goal is to fully leverage the concept of a replicable platform—adapting the same approach to various rare mutations by keeping the CRISPR delivery system and protein core constant, while modifying the RNA guide for each individual patient. This modular model reduces development time and could persuade regulatory agencies to streamline approval processes. KJ, in his misfortune, was lucky: his disease, a urea cycle disorder, primarily affects the liver, the natural destination for lipid nanoparticles, which act as shuttles to deliver CRISPR components into the target cells. However, the center won’t limit its focus to liver diseases. It also aims to tackle congenital immunodeficiencies from the outset. Early identification and rapid intervention will be crucial, and here the role of Jennifer Puck, a pioneer in newborn screening for severe combined immunodeficiency (SCID), will be vital.

The hope is not only to change the life trajectory of the center’s first patients, but also to address two broader challenges: finding every possible strategy to reduce the astronomical costs of these therapies (without compromising safety) and triggering a virtuous cycle of knowledge sharing. In true open science spirit, IGI will share data and documentation with other academic centers across the US to facilitate the adoption of similar treatments in different settings. Patient communities will also play a key role, particularly through the Rare As One network, to ensure clinical priorities are aligned with the real needs of families.

Rare diseases have already served as a training ground for research into more common conditions, and once again, Doudna and Chan believe the benefits could eventually reach a much larger number of people (you can hear them discuss this on Eric Topol’s podcast).

It’s worth remembering that CRISPR was invented in 2012, and the advanced model known as base editing, which corrects single letters in the genome, emerged in 2016, around the same time that both the Innovative Genomics Institute and the Chan Zuckerberg Initiative were getting off the ground. The first decade of the CRISPR era was symbolized by Victoria Gray, the trailblazing patient who received the first approved therapy using the technology (Casgevy), aimed at treating sickle cell disease and thalassemia. Now, baby KJ may become the mascot of CRISPR’s second decade. The wave of enthusiasm sparked by his case has generated powerful momentum. But will it be enough to drive the organizational revolution needed to reach patients with diseases that are technically treatable, yet too rare to attract the attention of the pharmaceutical industry?

[Translated from an article published in Osservatorio Terapie Avanzate]