Parents Seek Answers on CRISPR’s Role in Rare Disease Treatments

In May 2023, a groundbreaking moment in medical science was captured in a photograph of “Baby KJ,” the first infant treated with a personalized CRISPR gene-editing therapy. This innovative treatment corrected a single misspelled letter in his DNA, alleviating a severe liver disease. The story gained substantial media attention, with headlines heralding the arrival of personalized gene therapies for rare childhood diseases. However, for many families grappling with rare genetic conditions, such as those associated with the PURA syndrome, the excitement is tempered by uncertainty about when similar therapies might be available for their children.

As a mother of a child diagnosed with PURA syndrome, I have witnessed firsthand the hopes and questions that arose within the community following Baby KJ’s treatment. Discussions flourished on social media platforms, where parents inquired about the timeline for CRISPR therapies for their children and whether they should approach clinicians with these questions. The rapid development of Baby KJ’s treatment—a process completed in just six months—fueled hope for many families seeking alternatives to existing palliative care options.

While the prospect of a “cure” is exhilarating, my perspective as a neuroscience Ph.D. candidate and board member of the PURA Syndrome Foundation allows me to appreciate the complexities involved in gene therapy research. Families feel an urgent desire for tangible solutions, while scientists work diligently to ensure that breakthroughs are based on rigorous scientific principles. The reality is that significant challenges remain in translating successful treatments for one condition into viable options for others, especially in the context of neurodevelopmental disorders.

At a PURA syndrome family conference in June 2023, shortly after Baby KJ’s story broke, I presented on the connections between genetic research, brain development, and the implications for families like mine. Conversations often turn to questions about when CRISPR technology will be applicable to PURA syndrome. My answer is one filled with hope, yet grounded in realism: while we aspire for rapid progress, the timeline is likely measured in years, not months.

There exists a critical gap in understanding the nuances of gene therapies, particularly between the promise demonstrated in Baby KJ’s case and the reality faced by families dealing with more complex conditions. During the conference’s research panel, my colleagues and I endeavored to clarify these realities for eager parents. While Baby KJ’s treatment was indeed groundbreaking, it required not only scientific expertise but also extensive collaboration and established research methodologies.

Approximately 89.6% of pediatric rare diseases affect the nervous system, making the development of gene therapies for these conditions particularly challenging. Neurodevelopmental disorders like PURA syndrome present unique hurdles, including difficulties in safely and effectively delivering therapies to the brain. In contrast, conditions like Baby KJ’s liver disease are more straightforward targets for gene editing.

The newly established Center for Pediatric CRISPR Cures is prioritizing the development of personalized treatments for severe pediatric conditions, including rare metabolic disorders and inborn errors of immunity. These initial efforts may help streamline the process of creating gene therapies, ultimately making them more accessible and affordable. The same techniques could potentially be adapted to address the complexities of neurological disorders.

As advancements in gene therapy continue, it is crucial for scientists and clinicians to communicate effectively about what breakthroughs mean for different conditions. The term “cure” carries significant weight and can lead to misconceptions about the extent of recovery. For some families, it implies complete healing, while others see it as a means to alleviate symptoms. The media plays an essential role in shaping public understanding and should balance excitement with the complexities inherent in each case.

When Baby KJ’s story emerged, it became apparent that the CRISPR technology used in his treatment could herald a future of hope for many genetic conditions currently lacking effective therapies. Yet, headlines can create an impression of rapid, linear progress that may not be applicable to all rare diseases.

As a parent, I share the hope that accompanies such innovations. As a scientist, I am dedicated to the promise of gene therapy. However, my dual perspective emphasizes the importance of clear communication about the realities of medical advancements. Families affected by rare diseases deserve a realistic understanding of when they might benefit from these scientific breakthroughs. Celena Lozano, a dedicated advocate for individuals with neurodevelopmental disorders, continues to work toward increasing awareness and advancing research to improve lives within the rare disease community.