Development of novel therapeutics for CLN7 Batten's disease

Project: Research project

Project Details

Description

Since we now have identified phenotypes in neuronal models of CLN7 Batten’s disease, here we aim to test the efficacy of novel therapeutics that are customized to correct the unique mutations expressed by the patients. In collaboration with Dr. Timothy Yu, we will determine if novel antisense oligonucleotide drugs can restore lysosomal function, reduce pathological storage material, and halt neurodegeneration in vitro. In addition to neuronal models we will characterize the function of glial cell cultures of CLN7 patients. Recent studies have indicated that astrocyte dysfunction and neuroinflammation may precede and contribute to neuron loss in Batten’s disease [4]. Therefore, we will assess their function and contribution to neuron dysfunction in vitro. Our studies will impact the field by discovering novel therapies, as well as determine the contribution of glial cell dysfunction in CLN7 Batten’s disease.
StatusFinished
Effective start/end date3/1/222/29/24

Funding

  • Mila's Miracle Foundation, Inc. (MMF AGMT 3-30-22)

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