Orphan Disease Center 2023 Million Dollar Bike Ride Grants - $150,920 for STXBP1 Research Awarded
Two grants related to studies on STXBP1 disorders have been awarded to 2023 Million Dollar Bike Ride research grant recipients by the Orphan Disease Center. Two $75,460 grants were awarded for STXBP1 research, to Wendy Gold, PhD at the University of Sydney, and Xuebing Wu, PhD at Columbia University.
Thanks to Lulu’s Crew Team STXBP1 for fundraising and riding for STXBP1!
Grant Awardee: Wendy Gold, PhD at the University of Sydney
Project Title: Integrative omics: A novel approach to unravelling the complexity of STXBP1 encephalopathies
Project Summary: The paucity of any disease modifying therapeutic entering the clinic for STXBP1 is largely due to an incomplete understanding of the complex underlying disease pathophysiology and function of STXBP1 and the lack of useful clinical biomarkers. Clinical biomarkers can predict disease state, disease severity, and treatment efficacy and have the potential to enable earlier diagnosis, support novel treatments, and serve as surrogate outcome measures of improvement in key characteristics of disease and associated comorbidities in clinical trials. Through a multi-disciplinary, integrative “omics” analysis of patient blood samples, we aim to identify clinical biomarkers, disease drivers, and therapeutic targets that will contribute to improved clinical monitoring, treatment options, and outcomes for STXBP1 encephalopathies.
For more information on Dr. Gold and her work, see this webpage.
Grant Awardee: Xuebing Wu, PhD at Columbia University
Project Title: Systematic dissection of STXBP1 3’ UTR regulation to facilitate therapeutic development
Project Summary: Most STXBP1 mutations cause diseases by inactivating one copy of the gene. A potential therapy is to increase the expression of the remaining functional copy. By systematically mutating the noncoding regulatory sequences of STXBP1, we have identified promising targets of antisense oligos (ASOs) that can potently increase STXBP1 expression. We will test these ASOs in patient-derived neurons. If successful, these ASOs will be able to treat most STXBP1 patients, regardless the identity of the mutation.
For more information on Dr. Wu and his work, see this webpage.
Read more on the Orphan Disease Center 2023 Million Dollar Bike Fund Raiser recipients here.