Currently studies are on-going using human fibroblasts and iPSC cells, as well as mouse and Drosophila models of the disease.
Goals are to learn more about why mutations in TBCK lead to these phenotypes, and to perform targeted drug discovery for this progressive disease.
We are interested in learning more about patients with TBCK-related encephalopathy.
Please contact us if you are interested in hearing about patient registries and research studies.