The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare genetic disorder due to mutations in the p63 gene and characterized by limb defects, orofacial clefting, ectodermal dysplasia, and ocular surface defects that lead to the loss of vision.
Currently no specific treatments for this pathology exist leaving patients with supportive care to alleviate symptoms and thus greatly reduced quality of life.
We have identified a novel therapeutic strategy to preserve patient’s – affected by EEC syndrome– vision. We have demonstrated that applying a proprietary siRNA contrasts untoward effects of a causal mutation in the p63 gene in the patient derived models of the disease.
This finding provides a basis for the development of a therapeutic strategy that targets the cause of the disease.

TRL

Lead Optimization/Preclinical

Inventors

Di
Iorio
Mario
Vincenzo

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