After Receiving a Custom Experimental Medicine, a Teen With a Rare Genetic Disorder Walked on His Own for the First Time
The patient's genetic disorder causes frequent seizures and developmental delays. His progress, along with that of another boy who received a similar personalized treatment, highlights the promise—and challenges—of tailor-made drugs
Teenager Connor Dalby, who has a rare genetic disorder, began walking unassisted for the first time after receiving an experimental medicine tailored to his specific genetic mutation. The 17-year-old, whose mother Kelley Del Real described as a life-changing development, experienced a dramatic reduction in seizures and increased independence.
His condition, affecting brain development and movement, was caused by a harmful copy of the SCN2A gene, which led researchers to create allele-selective antisense oligonucleotides (ASOs) to target the faulty DNA. Dalby's case, alongside a similar 9-year-old boy with the same genetic mutation but a different mutation, contributed to the "n-of-one" medicine approach.
This innovative therapy, developed by the n-Lorem Foundation, demonstrates the potential for personalized medicine to reverse previously irreversible neurological issues. However, the long-term effectiveness and scalability of such treatments remain to be determined.
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