Turning Hope into Reality: How a Genetic Therapy Helped Connor

^{Photo credit: n-Lorem}

Connor Dalby is a 15-year-old teenager who loves music and the beach, but his journey has been far from ordinary. Diagnosed with a rare mutation in the SCN2A gene, his life has been filled with challenges.

From the time he was just a few weeks old, he had trouble sleeping and struggled with stomach issues. At eight months old, the situation became even more dire when Connor began experiencing seizures-up to a hundred a day.

For many years, Connor's family searched for answers. Finally, through whole genome sequencing -which is used to understand what may be causing symptoms or a disease-the cause of Connor's symptoms was identified as a mutation in the SCN2A gene.

Today, because of the support from the California Institute for Regenerative Medicine (CIRM) and n-Lorem, a nonprofit organization dedicated to developing personalized medicines for patients with ultra-rare diseases, Connor is receiving ongoing investigational therapy tailored specifically to his genetic mutation.

^{Listen to Connor's story. This content was provided courtesy of n-Lorem and Cytiva.}

Using a Drug to Correct Connor's Gene Mutation

Connor is being given an investigational intrathecal antisense oligonucleotide (ASO) treatment developed by n-Lorem, and CIRM provided funding to advance CIRM's first n=1 clinical trial at the University of California, San Diego Rady Children's Hospital. ASO treatment uses short, synthetic strands of DNA or RNA to specifically bind to target genes and adjust the production of proteins, often to reduce or correct those involved in diseases. The hope is that the drug corrects an ultra-rare genetic mutation that causes Connor's seizures, development delays, and movement disorder.

Since receiving the therapy in multiple doses, Connor has seen improvements. 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 lead investigator for the study, indicated that the medication seems to achieve its primary aims of reducing seizures and improving Connor's movement disorder. Plans call for increasing the dose of the medicine over time.

^{Listen to an interview from Dr. Olivia Kim-McManus on the importance of antisense oligonucleotide (ASO) treatments.}

Hope for the Future

By providing funding and support for groundbreaking research into genetic therapies, CIRM has helped make it possible for patients to access life-changing treatments.

As Kelley, Connor's mother, puts it, "The most sincere, heartfelt thank you to all of the scientists, doctors, researchers, companies, and donors that have turned a hopeless situation into so much possibility and potential for Connor, his brothers, and me. And it is all happening now-in my son's lifetime-and for that, I am eternally grateful."

Photo Credit: n-LoremPhoto Credit: n-LoremPhoto Credit: n-LoremPhoto Credit: n-LoremPhoto Credit: n-Lorem

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