Stanford, California – Scientists in Stanford have made a breakthrough in the treatment of Timothy syndrome, a rare genetic disorder that affects less than 100 people globally. By using a drug called an antisense oligonucleotide, researchers were able to restore brain cells affected by the mutation responsible for Timothy syndrome, according to a study published in the journal Nature.
Dr. Sergiu Pasca, a professor at Stanford University and the senior author of the study, expressed his excitement over the findings, noting that it marks the beginning of a new era for treating previously thought untreatable diseases. The study’s results may pave the way for potential treatments for other genetic conditions such as schizophrenia, epilepsy, ADHD, and autism spectrum disorder.
Timothy syndrome, characterized by heart problems, autism, epilepsy, developmental delay, and intellectual disability, provides a unique opportunity for researchers to study the impact of genetic mutations on brain development. The mutation in the CACNA1C gene, which controls calcium ion flow in cells, was identified as the key factor contributing to the disorder.
Through experiments involving brain organoids and “assembloids,” which mimic the brain’s developmental processes, researchers were able to identify abnormalities in neurons with the Timothy syndrome mutation. The use of an antisense nucleotide to counteract the effects of the mutation showed promising results in restoring cellular function and connectivity.
Moving forward, Pasca’s team aims to test the antisense drug in individuals with Timothy syndrome in the coming years. Additionally, research is underway to explore the role of calcium signaling in more common disorders like schizophrenia and bipolar disorder. The development of antisense drugs for other rare genetic conditions affecting brain development, such as Angelman syndrome and Dravet syndrome, is also being pursued.
While the focus has primarily been on single-gene disorders, the path to developing treatments for complex conditions involving multiple genes, like autism and schizophrenia, remains challenging. Despite the obstacles, there is optimism within the scientific community that advancements in genetic research will lead to more effective strategies for addressing these diseases in the future.