2025’s Gene Therapy Breakthroughs Show the Future of Genomics in Action

A new era of precision medicine is taking shape with remarkable speed, and few recent developments exemplify this better than the success of CRISPR-based and gene therapy interventions for rare neurogenetic diseases. In the past several weeks, a series of global milestones have demonstrated that genomic technologies are no longer confined to diagnostics alone. Instead, they are transforming into tools of direct intervention with life-altering potential for patients and families.

Angelman syndrome (AS) is one such disorder. It is caused by the loss or mutation of the maternal UBE3A gene and affects around one in 15,000 births. AS is associated with severe developmental delays, lack of speech, movement and balance difficulties, and epilepsy. There is no cure, and current treatments are only supportive. For decades, researchers and patient families have waited for therapeutic breakthroughs that could offer hope beyond symptom management.

Now, that hope is materialising.

A Global First: Baby KJ and a Bespoke CRISPR Therapy-for-One

In May 2025, Nature reported that a baby boy named KJ Muldoon became the first known person to receive a bespoke, CRISPR-based gene therapy tailored specifically to his unique genetic mutation. KJ was born with a rare and life-threatening condition known as CPS1 deficiency, a disorder that disrupts the body’s ability to process nitrogen from protein due to a mutation in the gene coding for the enzyme carbamoyl phosphate synthetase 1.

The therapeutic goal was clear: without intervention, high levels of ammonia would accumulate in KJ’s blood, risking severe brain damage or death. Traditional treatment through liver transplantation was months away. Instead, clinicians at the Children’s Hospital of Philadelphia, led by Dr Rebecca Ahrens-Nicklas, proposed a radical alternative.

Using a CRISPR-based technique called base editing, which allows for precise single-letter changes in DNA, the international team designed and deployed a therapy specifically correcting KJ’s mutation. In an unprecedented timeline, the therapy was developed, tested in mice and monkeys, and delivered in just six months — an achievement hailed as “remarkable.”

Following three doses of the therapy, KJ has made significant developmental progress. He now sits up unassisted and consumes protein-rich food with fewer medications. While his physicians stress that it is too soon to declare a cure, the clinical improvements are striking. His case is the first successful demonstration of a “therapy-for-one” using CRISPR to correct a unique mutation in vivo.

Beyond One Patient: A Glimpse of What’s Possible

While KJ’s therapy is unlikely to be replicated for another individual (it was specifically designed for his genome) the broader implications are profound. It sets a precedent for how CRISPR and base editing could be rapidly deployed to address ultra-rare diseases. This evolution in therapeutic capability redefines what’s possible when industry, academia, regulators, and patient families align.

Other breakthroughs continue to emerge. In the UK, precision gene therapy has shown clinical benefit in children with Huntington’s disease. In Australia, institutions and manufacturers are preparing to support similar therapies with scalable platforms and GMP-grade biomanufacturing capacity.

What This Means for Australia

For InGeNA and its members, these breakthroughs reaffirm the urgency of investing in Australia’s genomics ecosystem. As other countries shift from sequencing and screening to genomic intervention and cure, Australia must do the same. The opportunities are clear: improved patient outcomes, strengthened sovereign capabilities, and global leadership in precision healthcare.

The case for integrating genomic sequencing into newborn screening also grows stronger. Disorders like CPS1 deficiency and Angelman syndrome often manifest before significant organ damage has occurred. Early identification enables early intervention, improving outcomes and reducing the economic and emotional burden on families and the health system.

InGeNA’s Role in Enabling Impact

InGeNA’s mission to unify and advocate for the genomics industry in Australia includes ensuring that genomic therapies are developed, evaluated, and made accessible across the healthcare system. Through strategic events like our upcoming Cell and Gene Therapy Summit, we bring together the stakeholders who can turn these global milestones into local progress.

Companies like IDT, who contributed to KJ’s therapy, are already part of this growing conversation in Australia. Their involvement exemplifies the type of innovation and collaboration that InGeNA seeks to foster, bringing groundbreaking science from the lab to the clinic, and from the globe to Australia.

A Turning Point for Genomic Medicine

The journey of Baby KJ is more than a medical marvel. It is a signpost pointing to the future of precision medicine — one where therapies are developed not just for diseases, but for individuals. The genomic tools that made his therapy possible are now mature enough to be considered part of mainstream healthcare policy, investment, and planning.

For Australia to benefit, the genomics industry must work together to build the infrastructure, partnerships, and policy support that will enable innovation at scale.

Follow InGeNA to stay informed about how genomics is transforming lives and reshaping healthcare across the world.