Value Proposition
· High sensitivity: detection of specific splicing events
· High throughput: can assess multiple splicing scenarios due to tri-chromatic and tetra-chromatic reporter plasmids
· Improved SYNGAP1 treatment research
· Reduced time to assess candidate treatments
Technology Description
Researchers at Johns Hopkins have developed multiple SYNGAP1 tri-chromatic and tetra-chromatic splice reporter plasmids that allow the rapid screening of molecules capable of altering isoform expression patterns. The disclosed technology involves a minigene-based splice reporter system that reflects normal SYNGAP1 splicing events that occur in cells. This set of therapeutic development tools will accelerate the treatment development for SYNGAP1 related gene disorders such as intellectual disability, autism and schizophrenia.
Unmet Need
Current methods for assessing alternative splicing are limited by lack of specificity, limited throughput, complex methods, and no real-time visualization. This technology allows identification of bases critical to each splice event, rapid screening of antisense oligonucleotides, extrapolation of exonic and intronic sequences critical for splicing decisions, and interrogation of splicing events at single transcript resolution using amplicon sequencing. These advanced functions will give a competitive edge to companies using them to rapidly develop efficacious candidate treatments relating to SYNGAP1 related gene disorders.
Stage of Development
This technology has been evaluated using in vitro models and is showing positive results. It is currently available for market use.
Data Availability: Data available upon request.
Notes: These materials are available for internal research use only.
Publication: N/A
Related Technologies: C17156 and C15962
