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 INST NATIONWIDE CHILDREN'S HOSP

Award Amount

$625,164.00

Ceiling

$625,164.00

Awarded

March 19, 2026

Identifier

5R01NS134923-03

Research project focused on understanding TBCD-related encephalopathy mechanisms and developing gene therapy approaches.

Description

This project aims to determine the neuropathological mechanisms of TBCD variants using patient-derived cerebral organoids and investigate the molecular and clinical phenotypes in a series of TBCD knock-in mouse models. The study will evaluate the efficacy of targeted AAV-mediated gene replacement therapy.

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