Researchers from Children’s Hospital of Philadelphia (CHOP) played a key role in a study that demonstrated how gene editing was used to successfully treat Dravet syndrome, a particularly severe and deadly form of childhood epilepsy, in a preclinical model. The findings, recently published in the journal Science Translational Medicine, provide a proof of concept that gene editing could revolutionize how this form of epilepsy is treated in the future.
Dravet syndrome is a form of genetic epilepsy that is characterized by seizures that begin in the first year of life, along with differences in childhood development and features of autism spectrum disorder. Children with Dravet syndrome are also at a markedly increased chance of early death.
Ethan Goldberg, MD, PhD, a pediatric neurologist and Director of the Epilepsy Neurogenetics Initiative (ENGIN) and the Dravet Syndrome Foundation Comprehensive Care Center at CHOP, has specific expertise in evaluating and caring for children with Dravet syndrome and has led multiple studies that have contributed to a much greater understanding of the underlying mechanism of the disorder.
In this preclinical study, the Goldberg lab at CHOP worked with collaborators at The Jackson Laboratory (JAX) Rare Disease Translational Center (RDTC) and David Liu, PhD, at the Broad Institute, the inventor of base editing. The study focused on a specific Dravet-causing SCN1A genetic variant called R613X that affects the protein Nav1.1, an important sodium ion channel in regulating the activity of seizure-suppressing inhibitory neurons in the brain.
Using adenine base editing, the team efficiently corrected the disease-causing DNA change in a preclinical in vivo model. After editing, seizures frequency decreased, susceptibility to temperature-triggered seizures was markedly reduced, and survival improved, with nearly all treated subjects remaining alive.
“After years of investigating the complex mechanisms at the root of Dravet syndrome, we are beginning to translate those findings into potential therapeutic options for patients,” Goldberg said.
Goldberg noted that, unlike CHOP’s first personalized gene-editing treatment for a baby last year, which targeted the liver, a gene-editing approach for Dravet syndrome must target the brain.
“This study provides us with a critical starting point that will hopefully lead to clinical trials in the near future as the field works towards vectors that can efficiently and safely deliver base editing machinery to the brain,” Goldberg said.
Learn more about the study from the press release from The Jackson Laboratory.
Nelson et al. “In vivo adenine base editing ameliorates Dravet syndrome phenotypes in a mouse model.” Sci Transl Med. Online May 13, 2026. DOI: 10.1126/scitranslmed.adx5999.
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Researchers from Children’s Hospital of Philadelphia (CHOP) played a key role in a study that demonstrated how gene editing was used to successfully treat Dravet syndrome, a particularly severe and deadly form of childhood epilepsy, in a preclinical model. The findings, recently published in the journal Science Translational Medicine, provide a proof of concept that gene editing could revolutionize how this form of epilepsy is treated in the future.
Dravet syndrome is a form of genetic epilepsy that is characterized by seizures that begin in the first year of life, along with differences in childhood development and features of autism spectrum disorder. Children with Dravet syndrome are also at a markedly increased chance of early death.
Ethan Goldberg, MD, PhD, a pediatric neurologist and Director of the Epilepsy Neurogenetics Initiative (ENGIN) and the Dravet Syndrome Foundation Comprehensive Care Center at CHOP, has specific expertise in evaluating and caring for children with Dravet syndrome and has led multiple studies that have contributed to a much greater understanding of the underlying mechanism of the disorder.
In this preclinical study, the Goldberg lab at CHOP worked with collaborators at The Jackson Laboratory (JAX) Rare Disease Translational Center (RDTC) and David Liu, PhD, at the Broad Institute, the inventor of base editing. The study focused on a specific Dravet-causing SCN1A genetic variant called R613X that affects the protein Nav1.1, an important sodium ion channel in regulating the activity of seizure-suppressing inhibitory neurons in the brain.
Using adenine base editing, the team efficiently corrected the disease-causing DNA change in a preclinical in vivo model. After editing, seizures frequency decreased, susceptibility to temperature-triggered seizures was markedly reduced, and survival improved, with nearly all treated subjects remaining alive.
“After years of investigating the complex mechanisms at the root of Dravet syndrome, we are beginning to translate those findings into potential therapeutic options for patients,” Goldberg said.
Goldberg noted that, unlike CHOP’s first personalized gene-editing treatment for a baby last year, which targeted the liver, a gene-editing approach for Dravet syndrome must target the brain.
“This study provides us with a critical starting point that will hopefully lead to clinical trials in the near future as the field works towards vectors that can efficiently and safely deliver base editing machinery to the brain,” Goldberg said.
Learn more about the study from the press release from The Jackson Laboratory.
Nelson et al. “In vivo adenine base editing ameliorates Dravet syndrome phenotypes in a mouse model.” Sci Transl Med. Online May 13, 2026. DOI: 10.1126/scitranslmed.adx5999.
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