
Mercedes Paredes, MD, PhD, a researcher at the Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, together with Nadav Ahituv, PhD, from the Institute of Human Genetics; Kevin Bender, PhD, from the Center for Integrative Neuroscience; Young Shin Kim, MD, PhD, from the UCSF STAR Center for Neurodevelopmental Disorders; and Roy Ben-Shalom, PhD, from UC Davis MIND, has been awarded a $6.25 million grant from the California Institute for Regenerative Medicine (CIRM) to pioneer a novel approach for treating CNS-associated microdeletion syndromes, with a focus on 22q deletion syndromes.
Microdeletion syndromes, which cause severe neuropsychiatric symptoms and cognitive impairments, currently have few treatment options. Dr. Paredes' research aims to restore gene function by upregulating multiple genes—an innovative strategy designed by Dr. Ahituv's team, that could lead to a breakthrough in genetic disorder treatment. If successful, the project could reshape therapeutic approaches for neuropsychiatric conditions while advancing the broader understanding of brain function.
With a high-risk, high-reward approach, the study will also incorporate clinical outreach and patient advocacy to ensure research aligns with patient needs. The method’s potential impact extends beyond microdeletion syndromes, offering hope for broader applications in genetic and neuropsychiatric therapies. It also highlights the importance of patient-driven science to frame cell therapy development.
Impact and Future Directions
This research will provide critical insights into how chromosomal microdeletions contribute to severe neuropsychiatric disorders, which currently lack effective therapies. By identifying essential genomic regions, the project aims to develop new tools for functional rescue. Additionally, the study explores how neurovascular metabolism influences human brain development and contributes to neurodevelopmental disorders.
Dr. Paredes' project is supported by CIRM’s ReMIND initiative, established through Proposition 14, which allocates at least $1.5 billion of its $5.5 billion in bond funding toward research and the development of treatments for diseases affecting the brain and central nervous system.
Learn More About the Award and CIRM’s Initiatives:
- CIRM awards nearly $100 million to boost discovery, translational, and clinical disease research
- CIRM awards $67.5 million to address neuropsychiatric diseases through its ReMIND program
- California’s stem cell agency approves new plan to invest $110M into basic research in neuropsychiatric diseases
This groundbreaking research represents a significant step toward addressing the unmet needs of individuals with microdeletion syndromes and related neuropsychiatric conditions.