Like many other 15 year-olds, Connor Dalby loves music and the beach, but unlike most of his peers his life has been anything but ordinary.
As an infant he struggled with sleep and persistent stomach issues. As time went on, his condition worsened. By eight months old he was experiencing seizures, sometimes up to a hundred a day.
SCN2A gene
For years, Connor’s family searched tirelessly for answers. Eventually, whole‑genome sequencing revealed the cause of his symptoms, a mutation in the SCN2A gene.
Today, thanks to support from the California Institute for Regenerative Medicine (CIRM) and the non-profit n‑Lorem, Connor receives an ongoing investigational therapy. Researchers tailored the treatment to his genetic mutation.
Using a Drug to Correct Connor’s Gene Mutation
Known as intrathecal antisense oligonucleotide (ASO), the treatment offers hope. With n-Lorem. CIRM provided funding to launch its first clinical trial at the University of California, San Diego Rady Children’s Hospital.
The treatment uses short, synthetic strands of DNA or RNA to bind specific genes and adjust protein production. This in turn often reduces or corrects disease‑causing proteins. Ultimately, the goal is to address Connor’s ultra‑rare genetic mutation, the underlying cause of his seizures, developmental delays, and movement disorder.
Since beginning treatment and receiving multiple doses, Connor has shown meaningful improvement. He started typing on a wooden keyboard, began sleeping better, and even started walking independently.
The medication has already reduced seizures and improved Connor’s movement disorder. Moving forward, the plan is to gradually increase the dose over time, said Olivia Kim‑McManus, a neurologist at Rady Children’s Hospita in San Diego. Kim‑McManus is the study’s lead investigator.
Hope for the Future
By funding and supporting groundbreaking research in genetic therapies, CIRM helped make life‑changing treatments accessible to patients. Because of this commitment, families confronting rare diseases now have new avenues for hope.
“The most sincere, heartfelt thank you to all of the scientists, doctors, researchers, companies, and donors,” Connor’s mother Kelly said. “They have turned a hopeless situation into so much possibility and potential. For that, I am eternally grateful.”
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