Scripps Research and UC San Diego have been awarded a substantial $4 million grant from the California Institute for Regenerative Medicine (CIRM) to investigate haploinsufficiency, a genetic condition linked to various neurodevelopmental disorders, including treatment-resistant epilepsy. This initiative will be led by neuroscientist Giordano Lippi, who will collaborate with molecular biologist Gene Yeo and pediatric neurologist Dr. Olivia Kim Mcmanus.
The research is set to unfold over a three-year period and will utilize pluripotent stem cells to develop cortical organoids. These lab-created structures are designed to replicate the functionality of brain cell networks, enabling an in-depth examination of how genetic irregularities impact neuronal activity.
Researchers believe that organoids provide a conducive environment for exploring treatment options for haploinsufficiency. This condition typically arises when only one of two gene copies is active, leading to 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. He emphasized that by gaining insights into the regulation of these genes and how to restore protein levels, the team hopes to discover new avenues for addressing complex neurodevelopmental disorders.
The CIRM was established in 2004 following the approval of Proposition 71, which was a response to a federal ban on most research involving human embryonic stem cells. The institute raised $3 billion through bond sales, which it allocated to researchers across California investigating the potential of stem cells in treating various diseases. In 2020, voters approved an additional $5.5 billion for the CIRM through Proposition 14.
To date, CIRM reports that its funding has directly facilitated 116 clinical trials and has supported a network of nine “alpha clinics,” including UC San Diego, which have conducted over 250 additional stem cell trials.
