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 (Technology Readiness Level)

Lead Optimization/Preclinical

Inventors

Di Iorio Mario Vincenzo

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PoC@Unipd project 2022

With the aim of supporting the competitiveness of businesses by enhancing industrial properties, the Ministry for Economic Development (MISE) has published a call for the establishment of patent enhancement programs, through funding of Proof of Concept (PoC) projects by Italian Universities, Public Research Institutions (EPR), and Scientific Institutions for Research, Hospital and Healthcare (IRCS).

Purpose of the call is establishing TRL (Technology Readiness Level) enhancement paths for technologies patented during academic research, and create the conditions to turn them into strategic opportunities for the business world.

After careful examination of the project proposals received by the Ministry Evaluation Committee, the University of Padua was authorized to develop 8 PoC projects. The projects were selected by the University through an internal call and the program took the first steps in December 2023. From that moment on, the PoC Team started to work to validate the relevant technologies. 

The academic work team has been flanked by an external Expert Committee, comprising top scientific and professional resources (investors and entrepreneurs), capable of providing a respected standpoint on all strategic and planning choices.

UniSMART – Fondazione Università di Padova was tasked with managing the enhancement of the results of 8 projects, through its highly qualified, innovation-oriented staff, in the different PoC project sectors.

PROGETTO PoC@UNIPD2022 – PNRR – Missione 1, Componente 2, Investimento 6 – finanziato dall’Unione Europea – NextGenerationEU

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