Skip to content

Research Platforms

We have funded and licensed technology for developing treatments for IQSEC2 mutations. This technology involves the use of mice genetically altered to express specific IQSEC2 mutations and neurons derived from children with IQSEC2 generated by genetic reprogramming of skin fibroblasts. These platforms faithfully recapitulate IQSEC2 disease allowing them to be used to assess efficacy of treatments. 

Gene Therapy

Our current focus for treatment is based on AAV mediated gene therapy. We have developed novel processes to overcome technical hurdles in the use of AAV with the large open reading frame of IQSEC2 which may be generalizable to other genetic disorders mediated by genes with large open reading frames. Preclinical studies using adeno associated virus-based gene therapy have shown promising results in rescuing disease in IQSEC2 mutation models suggesting a clear translational path to proof of concept studies of the efficacy of these AAV in children with IQSEC2 mutations.