CLN7 project

Project: Research project

Description

Aim 1) Determine if AAV2-CLN7 expressing virus can restore autophagic-lysosomal functionality in patient fibroblasts. Here, we will test AAV2 -CLN7 vectors developed in the labof Steven Gray on their ability to improve lysosomal function and reduce storage material in CLN7 patient fibroblasts.
Aim 2: Determine the dose-dependency of experimental exon-skipping drugs that restore CLN7 expression in patient fibroblasts. Here, we will use the same assays as described above todetermine the upper and lower limits of exon-skipping oligonucleotides developed by Timothy Yu. We have already determined an effective dose of the lead oligo (777) and will use this as a
starting point.
StatusFinished
Effective start/end date5/1/187/31/18

Funding

  • Mila's Miracle Foundation, Inc. (Check 5571111)

Fingerprint

Fibroblasts
Exons
Oligonucleotides
Viruses
Pharmaceutical Preparations
Lead