Connor Dalby is a 15‑year‑old who loves music and the beach, but his journey has been anything but ordinary. Diagnosed with a rare mutation in the SCN2A gene, Connor faced significant challenges.
A few weeks after birth, he struggled with sleep and persistent stomach issues. By eight months old, his condition worsened when he began experiencing seizures, sometimes up to a hundred a day.
SCN2A gene
For many years, Connor’s family searched for answers. Whole‑genome sequencing finally identified the cause of his symptoms—a mutation in the SCN2A gene.
Today, thanks to support from the California Institute for Regenerative Medicine (CIRM) and n‑Lorem—a nonprofit that develops personalized medicines for ultra‑rare diseases—Connor is receiving an ongoing investigational therapy tailored specifically to his genetic mutation.
Using a Drug to Correct Connor’s Gene Mutation
Connor receives an investigational intrathecal antisense oligonucleotide (ASO) treatment developed by n‑Lorem. CIRM provided funding to advance CIRM’s first n=1 clinical trial at the University of California, San Diego Rady Children’s Hospital. ASO therapy uses short, synthetic strands of DNA or RNA to bind specific genes and adjust protein production. This often reduces or corrects disease‑causing proteins. The goal is to correct Connor’s ultra‑rare genetic mutation, which causes seizures, developmental delays, and a movement disorder.
Since starting treatment and receiving multiple doses, Connor has improved. He began typing on a wooden keyboard, sleeping better, and walking on his own.
Olivia Kim‑McManus, a neurologist at Rady Children’s Hospital–San Diego and the study’s lead investigator, reported that the medication reduced seizures and improved Connor’s movement disorder. The plan is to increase the dose over time.
Hope for the Future
By funding and supporting groundbreaking research in genetic therapies, CIRM has helped make life‑changing treatments accessible to patients.
“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 Connor, his brothers, and me. For that, I am eternally grateful.”
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