Researchers from Scripps Research and UC San Diego have been awarded a significant grant of $4 million from the California Institute for Regenerative Medicine to investigate a genetic condition associated with epilepsy. This funding will facilitate a three-year study led by neuroscientist Giordano Lippi, in collaboration with co-investigators Gene Yeo, a molecular biologist, and Olivia Kim Mcmanus, a pediatric neurologist and epileptologist.
The primary focus of this research is haploinsufficiency, a genetic disorder where only one copy of a crucial gene functions, potentially leading to various neurodevelopmental issues, including severe, treatment-resistant epilepsy. The team plans to utilize pluripotent stem cells to engineer cortical organoids, which are three-dimensional structures that can replicate the behavior of brain cell networks. This innovative approach aims to shed light on how genetic mutations influence neuronal activity.
According to Lippi, “We are developing a technology that can effectively “turn the volume back up” on genes in which one copy has been silenced. By understanding how these genes are regulated and learning how to restore their protein levels, we hope to uncover new paths for treating complex neurodevelopmental disorders.”
The California Institute for Regenerative Medicine was established in 2004 as a response to a federal prohibition on most research involving human embryonic stem cells. The initiative has since allocated $3 billion in funding to researchers throughout California for various stem cell research projects aimed at studying and treating numerous diseases. In 2020, voters approved an additional $5.5 billion in funding through Proposition 14, further supporting regenerative medicine advancements.
To date, the organization has reported that its grant funding has facilitated 116 clinical trials, contributing significantly to the field of regenerative medicine and the exploration of potential treatments for a range of conditions.
