Brain Organoids and Assembloids: Novel Models for Understanding and Treating Neurodevelopmental Disorders

Recently, in an April 24 Nature publication, Sergiu Pasca, Professor of Psychiatry and Behavioral Sciences, and his team showcased the potential of antisense oligonucleotides (ASOs) to address the underlying defects causing Timothy syndrome. By directing calcium-channel production towards a non-mutated gene variant, ASOs effectively reversed the syndrome's adverse effects. This correction facilitated normal interneuronal migration and restored the electrical properties of the calcium channel. Demonstrated initially in laboratory settings and rat-transplantation experiments, these findings suggest promise for therapeutic application in living organisms.

Prof. Pasca is actively identifying carriers of the genetic defect worldwide, laying the groundwork for a Stanford Medicine clinical trial to evaluate ASOs' safety and therapeutic efficacy in managing Timothy syndrome. Engaging with scientists, clinicians, and ethicists, Prof. Pasca emphasizes the importance of a cautious approach towards clinical implementation.

Furthermore, Prof. Pasca notes that the mutated calcium channel involved in Timothy syndrome is implicated in various neuropsychiatric disorders like schizophrenia and bipolar disorder. Insights gained from addressing this rare syndrome may thus extend to broader psychiatric conditions, offering potential therapeutic avenues for widespread neurological challenges.

SOURCE: https://med.stanford.edu/news/all-news/2024/04/timothy-syndrome.html 

CREDITS: STANFORD MEDICINE