Scripps and UCSD Researchers Secure $4 Million for Stem Cell Study

A team of researchers from Scripps Research and the University of California, San Diego (UCSD) has been awarded a substantial grant of $4 million from the California Institute for Regenerative Medicine (CIRM). The funding will support a groundbreaking study on haploinsufficiency, a genetic condition where only one copy of a crucial gene functions, leading to various neurodevelopmental disorders, including treatment-resistant severe epilepsy.

The principal investigator, Giordano Lippi, a neuroscientist at Scripps Research, will collaborate with two distinguished co-investigators: Gene Yeo, a molecular biologist at UCSD, and Dr. Olivia Kim Mcmanus, a pediatric neurologist and epileptologist. This three-year project aims to utilize pluripotent stem cells to create cortical organoids—lab-made structures that can replicate the functionality of brain cell networks.

Exploring Genetic Mechanisms and Treatment Options

These organoids are expected to provide a unique environment for researchers to investigate how genetic abnormalities influence neuronal activity. The study targets the underproduction of essential proteins caused by the malfunctioning gene copy, a condition common in haploinsufficiency cases.

“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.”

CIRM, established in 2004 following the passage of Proposition 71, was created to counter a federal ban on most research involving human embryonic stem cells. Initially funded by the sale of $3 billion in bonds, the institute allocates resources to researchers throughout California who propose using stem cells to study and potentially treat a variety of diseases.

In 2020, voters approved an additional $5.5 billion in funding for CIRM through Proposition 14, reinforcing its commitment to advancing stem cell research. To date, CIRM reports that its funding has directly supported 116 clinical trials and established an “alpha clinic” network of nine hospitals, including UCSD, which has hosted over 250 additional stem cell trials.

This latest grant signifies a critical step toward understanding and potentially mitigating the impacts of haploinsufficiency, a condition that continues to challenge medical professionals and affect numerous patients worldwide. The findings from this research could pave the way for innovative treatments, enhancing the quality of life for those affected by these debilitating disorders.