In May, a historic moment in science and medicine was captured in a single photo that circulated across news outlets worldwide. It showed “Baby KJ,” the first infant treated with a personalized gene-editing drug, in the arms of the research team behind the breakthrough.
The drug fixed a single misspelled letter in his DNA that caused a severe, life-threatening liver disease. Headlines everywhere touted the “First Personalized CRISPR Gene Editing Therapy.” Two months later, Time magazine’s story on the Chan Zuckerberg Initiative’s $20 million investment in CRISPR therapies suggested a future where gene therapy could “cure rare childhood diseases.”
I’m the mother of a child with a rare neurodevelopment disorder called PURA syndrome, and I saw firsthand how families of children with rare genetic diseases reacted to Baby KJ’s story. On a PURA syndrome Facebook group, parents asked when our children would be in line for CRISPR therapies and whether this was something to bring up with clinicians. Some emphasized that Baby KJ’s treatment was developed in just six months.
As a parent myself, I resonate with the hope for a “cure” — any option beyond the palliative treatments that are currently available. Who wouldn’t be excited about a single therapy that could alleviate some of the negative symptoms that affect our children’s quality of life — maybe even reverse them?
But I also carry another perspective. I am a neuroscience Ph.D. candidate studying neurodevelopment and a board member for the PURA Syndrome Foundation. My different identities mean I navigate multiple worlds — I see parents desperate for answers and tangible solutions as well as scientists working rigorously to produce quality science, which unfortunately takes time.
As a first-generation student surrounded by close family members and friends who do not know or understand what I do, it is never lost on me that I hold immense privilege. When my son was first diagnosed, I immediately did a PubMed search and added all the published research articles I could find to a Zotero library collection. I reviewed the literature and spent hours alongside a project scientist in my research lab, looking into what was known about the PURA gene to see whether we could find a genotype-phenotype relationship for my son’s mutation. Shortly after his diagnosis, I had the opportunity to move to a lab that develops rare disease models and gene therapies, where I am completing the second half of my thesis research.
At the PURA syndrome family conference this past June, a month after the Baby KJ announcement, I gave a presentation called “How Genes, Brain Development, and Research Connect.” Shortly after the presentation, as I walked into the bathroom, another PURA parent looked at me and asked, “When will there be CRISPR for PURA?”
All I can tell her is: Soon, we all hope. But likely not for years.
There is a critical gap in communication about the potential of gene therapies: the difference between what has been achieved with Baby KJ, what is realistically in reach, and what remains a more distant possibility. During a research panel at that conference, I and other researchers tried to lay out the reality for excited parents without crushing anyone’s hopes: Baby KJ’s treatment was miraculous, but it required immense work and collaboration, the biology to be well-understood, and pipelines to be in place.
For families of the pediatric rare disease community, headlines drive elevated hope and excitement. But they also lead to heightened expectations and emotional strain for those facing more complex rare diseases — like the 89.6% of them that affect the nervous system, including PURA syndrome — which are unlikely to be in line for the first generation of gene therapies. The headlines may lead families to misunderstand the technical and biological barriers of delivering gene therapies to the human brain, the long-term effects, and the immune responses.
Neurodevelopmental disorders like PURA syndrome present early in life and cause a spectrum of challenges with mobility, cognition, communication, and behavior. Comorbidities, such as epilepsy, can be life-threatening or severely disabling. The brain is incredibly complex and hard to access, which complicates the ability to effectively, efficiently, and safely deliver gene therapies.
While these brain disorders comprise a large percentage of all rare childhood genetic diseases, developing gene therapies for them is more challenging than for easily targetable and accessible liver disorders like Baby KJ’s. The new Center for Pediatric CRISPR Cures is directing its first efforts toward developing personalized CRISPR on-demand treatments for severe pediatric conditions such as rare metabolic disorders and inborn errors of immunity, where patients can’t break down basic nutrients such as proteins, fats, or sugars or are more susceptible to infections and immune dysregulation, respectively.
Early progress in CRISPR gene therapies will help to standardize the delivery process and suggest how to streamline it to become more affordable and accessible. The same technology could be used to treat diseases with more complex biology — particularly the brain. But while many researchers and clinicians are working to develop gene therapies for neurological disorders, good science takes time.
And while we celebrate the medical advancements that will continue to make the news, journalists should also be cautious of the word “cure” and the weight it carries. For some families, it suggests complete reversal and for others it means alleviating symptoms. And for many other families, the term oversimplifies the complexity of rare neurodevelopmental disorders and overlooks the lifelong process of acceptance and adaptation that families experience.
As the field of gene therapy continues to progress, there must be a group effort in trying to clearly communicate the breakthroughs and their applicability. When announcing scientific findings and discussing them with the media, scientists must explain why a therapy works for one disorder and not for others. Clinicians must do the same by acknowledging the promise of gene therapy while clarifying whether it is within reach for their patient. The media should continue to celebrate scientific and medical accomplishments but also discuss the limitations and nuances that accompany each success. Policymakers can support this by funding science communication training and requiring lay summaries in research. It is equally important for the public to read past the hype and engage with their community if gene therapies are of interest to them.
When Baby KJ’s story was published, I knew that the CRISPR technology used as a medical intervention for his rare liver disease was indeed revolutionary. It offers a glimpse into a future where improved well-being may be possible for genetic conditions where effective treatments are largely unavailable. But the headlines imply that progress is linear and generalized, that treatments for all childhood rare diseases are within reach.
As a parent, I too am hopeful. As a scientist, I believe in the promise of gene therapy. But it is my position between those worlds, and my privilege as a scientist with access to knowledge many families don’t, that convinces me we must do better at how we talk about these medical breakthroughs.
News articles get at the real potential gene therapies that lead to breakthroughs like Baby KJ are one day possible. But until then, families of the rare disease community deserve to have a better understanding of when their child might be next.
Celena Lozano, a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation, strives to advance research, increase acceptance, and promote awareness to improve the lives of individuals with neurodevelopmental disorders.
