Award
National Institute of Neurological Disorders and Stroke 5R01NS134923-03
Uncovering mechanisms and developing novel therapeutic strategies for TBCD-related developmental and epileptic encephalopathy
Recipient
Research Institute Nationwide Children's Hospital, Columbus, OH, United States
Award Amount
$625,164.00
Ceiling
$625,164.00
Awarded
March 19, 2026
Identifier
5R01NS134923-03
NIH awarded a research grant to Nationwide Children's Hospital to study TBCD gene-related developmental and epileptic encephalopathy, using cellular and animal models to understand disease mechanisms and develop gene therapy.
Description
This NIH grant supports research to determine the neuropathological mechanisms of TBCD variants using patient derived cerebral organoids and investigate molecular and clinical phenotypes in TBCD knock-in mouse models. The project also evaluates the efficacy of targeted adeno-associated virus gene replacement therapy in these models.