We are delighted to share the great news that lead researcher, Dr. Michele Jacob, Professor of Neuroscience at Tufts University, was recently awarded an NIH grant to conduct proof-of-concept studies of the therapeutic efficacy and safety of gene replacement therapy in CTNNB1 syndrome models. The studies are using two preclinical models of CTNNB1 heterozygosity, an in vivo mouse line and human muscle cells derived from pluripotent stem cells (iPSCs). The lab is using newly developed, next-generation muscle tropic adeno-associated viral vectors (AAVs) to express CTNNB1/beta-catenin in the heterozygote models. They will test whether gene replacement therapy will significantly normalize beta-catenin levels and muscle phenotypes relevant to this syndrome. The grant award is $275,000 over 2 years in direct funding to the lab. Read the full press release here.
In addition to this new approach, the Jacob lab will continue their research into pharmaceutical and RNA-based treatments for CTNNB1 syndrome.