Mercedes Paredes, MD, PhD, a researcher at the UCSF Broad Stem Cell Center and Associate Profession in the Department of Neurology and in the Neuroscience, Developmental and Stem Cell Biology, and Biomedical Sciences graduate programs, 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, is pioneering 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 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.
This groundbreaking research represents a significant step toward addressing the unmet needs of individuals with microdeletion syndromes and related neuropsychiatric conditions.
Dr. Paredes received the President's Early Career Award for Scientists and Engineers from former President Biden.