Scripps Research and UC San Diego have been awarded a $4 million grant from the California Institute for Regenerative Medicine to investigate a genetic condition known as haploinsufficiency, which can lead to serious neurodevelopmental disorders, including treatment-resistant epilepsy. The project will be spearheaded by neuroscientist Giordano Lippi from Scripps Research, who will collaborate with Gene Yeo, a molecular biologist, and Dr. Olivia Kim Mcmanus, a pediatric neurologist and epileptologist at UC San Diego.
This three-year initiative aims to employ pluripotent stem cells to develop cortical organoids—miniaturized brain structures that replicate the neuronal networks found in the human brain. These organoids will enable researchers to explore how genetic irregularities associated with haploinsufficiency disrupt neuron functionality.
Haploinsufficiency occurs when only one of a pair of genes is functional, often resulting in the insufficient production of essential proteins. “We are developing a technology that can effectively “turn the volume back up” on genes in which one copy has been silenced,” Lippi stated. “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 limitation on research involving human embryonic stem cells. Since its inception, the institute has funded numerous projects aimed at utilizing stem cells to explore and address various diseases. An additional funding measure, Proposition 14, approved by voters in 2020, allocated further resources to support ongoing research efforts.
According to the institute, its grants have facilitated 116 clinical trials to date, highlighting the significant impact of state-supported research on the medical community and patient care.
