Pharmacological induction of autophagy to treat CHM

Awardee: Ivan Conte

Institution: University of Naples Federico II

Award Amount: $64,990

Funding Period: February 1, 2021 - January 31, 2022


Final Report Lay Summary:

The main goal of this project was to characterize at fine scale the contribution of molecular network regulating the autophagy pathway in the Retinal Pigment Epithelial ce ls. We demonstrated that impairment of ce l clearance in the RPE may affect visual system in the Choroideremia. Interestingly, we put the basis for developing a new therapeutic strategy to treat CHM, which stil represents a cha lenge, Remarkably, the therapy described herein was safe and wel tolerated showing no adverse effects associated with pharmacological treatment up to 3 months of treatment, the longest time for which the drug was tested on CHM mice. Lately, in vitro studies using hiPSC-derived RPE ce l sheet give us the opportunity to move forward with regulatory studies prerequisite to clinical trials for choroideremia patients.

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Characterization of Telomere Maintenance in Tumor Models of Dyskeratosis Congenita

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Maximising the Utilisation of the Hyperinsulinism Global Registry (HIGR) [Max HIGR]