Gene-based therapy has shown promising results in restoring cellular development and function in the brain cells of individuals with Timothy syndrome, a rare genetic disorder. The study, supported by the National Institutes of Health (NIH), offers a potential treatment pathway for this devastating neurodevelopmental disorder that affects multiple bodily systems.
Researchers at Stanford University conducted the study, which utilized antisense oligonucleotides (ASOs) to correct cellular deficits in Timothy syndrome. The treatment restored typical cellular function in 3D structures known as organoids, created from cells of people with the syndrome. The results showed that the ASOs were able to restore normal functioning in cells, and the effects lasted at least 90 days.
Timothy syndrome is caused by a genetic mutation in the CACNA1C gene, impacting calcium channels critical for cellular communication. The ASOs tested in the study were able to decrease the use of the mutated exon 8A and restore normal calcium channel functioning.
The research, supported by grants MH115012 and MH119319, offers hope for an effective treatment for Timothy syndrome. The National Institute of Mental Health (NIMH) aims to transform understanding and treatment of mental illnesses through research, while the NIH conducts and supports medical research to investigate causes, treatments, and cures for common and rare diseases.
The NIH’s mission is to turn discovery into health, and this study on gene-based therapy for Timothy syndrome is a significant step towards achieving that goal. The results of this research provide promising prospects for those affected by this rare genetic disorder.
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