Findings could serve as foundation for new treatment approaches for Timothy syndrome.
Gene therapy used antisense oligonucleotides (ASOs) to restore normal functioning in cells and organoids, with effects lasting at least 90 days.
Researchers at Stanford University have demonstrated gene therapy's potential to restore normal cellular function in organoids for Timothy syndrome.
The study was led by Sergiu Pasca and published in the journal Nature.
Timothy syndrome is caused by a mutation in the CACNA1C gene, which controls calcium channels critical for cellular communication.
In a groundbreaking study, researchers at Stanford University have demonstrated the potential of gene therapy to restore normal cellular function in organoids created from people with Timothy syndrome, a rare genetic disorder that affects multiple bodily systems and can lead to severe cardiac, neurological, and psychiatric symptoms. The research was led by Sergiu Pasca and published in the journal Nature.
Timothy syndrome is caused by a mutation in the CACNA1C gene, which controls calcium channels critical for cellular communication. The therapy used antisense oligonucleotides (ASOs) to restore normal functioning in cells and organoids, with effects that were dose-dependent and lasted at least 90 days.
The study's findings could serve as the foundation for new treatment approaches for Timothy syndrome. Joshua A. Gordon, M.D., Ph.D., director of the National Institute of Mental Health (NIMH), said,
Researchers demonstrated the effectiveness of a potential new therapy for Timothy syndrome, a rare genetic disorder affecting multiple bodily systems.
The treatment restored typical cellular function in organoids created from cells of people with Timothy syndrome.
Sergiu Pasca of Stanford University led the research, collecting cells from individuals with and without Timothy syndrome to examine a specific gene region, CACNA1C, which contains a mutation causing the disorder.
Antisense oligonucleotides (ASOs) were used to restore normal functioning in cells and organoids; effects were dose-dependent and lasted at least 90 days.
The genetic mutation affecting Timothy syndrome targets the exon 8A region of the CACNA1C gene, which controls calcium channels critical for cellular communication. The therapy increased reliance on a nonaffected exon, restoring normal calcium channel functioning.
Holden was born with an extremely rare genetic disease called Timothy syndrome which causes long, irregular gaps in heart rhythm.
Holden spent the first six months of his life hospitalized due to his heart condition and received an implantable cardioverter defibrillator at a young age.
Kelby Hulet, Holden’s father, realized Holden’s episodes reminded him of warning signs for stroke and requested a detailed neurologic evaluation.
Accuracy
]Holden had seizures that his parents couldn't understand.[
