Orphan Disease Center 2024 Million Dollar Bike Ride Grants - $139,416 for STXBP1 Research Awarded

Written By Russ Novy

Two grants related to studies on STXBP1 disorders have been awarded to 2024 Million Dollar Bike Ride research grant recipients by the Orphan Disease Center. Two $69,708 grants were awarded for STXBP1 research, to Laura Prosser, PhD at the Children’s Hospital of Philadelphia Research Institute, and Chaolin Zhang, PhD at Columbia University.

Thanks to Lulu’s Crew Team STXBP1 for fundraising and riding for STXBP1-related disorders.

Grant Awardee:  Laura Prosser, PhD

Project Title: Quantifying Movement Patterns in Children with STXBP1 Related Disorders

  • Project Summary: Individuals with STXBP1-RD often present with movement disorders with varying severity and there is a need for accurate and consistent measurements of these unique movement patterns. Wearable sensors, which are similar in size and weight to a smartwatch, have been well-tolerated in other clinical populations to measure movement disorders. Wearable sensors can also be used in many locations, such as home, school, and clinical settings, which may offer the opportunity to include participants who would be otherwise limited by the need to travel. We are seeking support from the Million Dollar Bike Ride Grant to evaluate the potential for wearable sensors to assess and distinguish the unique movement patterns observed in individuals with STXBP1-RD.

  • For more information on Dr. Prosser and her work, see this webpage.

Grant Awardee: Chaolin Zhang, PhD

Project Title: A deep screen of RNA-based therapeutics for STXBP1 syndrome

  • Project Summary: This project, led by Chaolin Zhang at Columbia University, aims to develop a new treatment for STXBP1 syndrome, a severe genetic disorder linked to epilepsy. The research focuses on using RNA-based therapeutics, specifically antisense oligonucleotides (ASOs), to boost the production of the STXBP1 protein, which is deficient in patients with the syndrome. ASOs have already shown promise in treating other genetic disorders, such as spinal muscular atrophy. The challenge lies in identifying the most effective RNA regions to target with ASOs. Zhang’s team has developed a high-throughput screening method using a modified CRISPR/Cas13 system, which can help pinpoint these key regions in the STXBP1 gene’s untranslated regions (UTRs). By applying this method, they hope to identify RNA elements that regulate the gene’s stability and protein production. Once identified, these elements will be validated using ASOs in human cell models to confirm their ability to restore STXBP1 protein production. If successful, this research could pave the way for a targeted treatment for STXBP1 syndrome and provide a model for developing therapies for other genetic disorders.

  • For more information on Dr. Zhang and his work, see this webpage.

See all the grants awarded for STXBP1-related disorders by the Orphan Disease Center here.

The Orphan Disease Center is part of the University of Pennsylvania’s School of Medicine.

 Laura Prosser, PhD

Chaolin Zhang, PhD

 
Russ Novy
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