Inside the work of Olivia Kim-McManus, MD, whose team engineered a one-of-a-kind treatment for a teen who had lived with relentless seizures since infancy.
Some of the most important research at Rady Children’s starts with a single child that medicine had run out of answers for. That is where Olivia Kim-McManus, MD, began — and the result, published this summer in Nature Medicine, is now drawing national attention.
Dr. Kim-McManus, a child neurologist and director of our Precision Therapeutics Neuro-Interventional Program, worked with colleagues at UC San Diego and Ionis Pharmaceuticals in Carlsbad to design an antisense oligonucleotide, or ASO — a therapy built for one patient’s genetic signature. Her patient, a 17-year-old from Oceanside, has developmental and epileptic encephalopathy caused by a mutation in one copy of his SCN2A gene. The treatment the team engineered silences the signal from the faulty copy while leaving the healthy copy intact. His seizures dropped by roughly 90 percent, and he began walking for the first time in his life.
The San Diego Union-Tribune’s Paul Sisson spent time with the family and the care team to tell the story behind the science — a mother’s decade-long search for an answer, and what it means for the many other children who may one day benefit from the same approach.
Read the Full Story in The San Diego Union-Tribune
Why This Matters Beyond One Patient
The differences the team exploited in the SCN2A gene are common enough across the population that the same strategy could apply to children with a wide range of harmful mutations, rather than requiring a brand-new drug for every child. Paired with early genetic sequencing, that opens the door to treating seizures before they cause lasting developmental delay. Funding for the work came from the California Institute for Regenerative Medicine, and the findings are published in Nature Medicine.
This kind of work sits at the intersection of two Rady Children’s strengths: the clinical depth of our Neurosciences teams — including the Center for Children with Epilepsy and our Precision Medicine Clinic — and the rapid genomic sequencing pioneered by the Rady Children’s Institute for Genomic Medicine, which has helped diagnose thousands of children with rare genetic conditions.