siRNA for EEC associated blindness

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.

Advantages
- No specialized treatment for ECC syndrome exists. We propose the solution that targets the cause of the disease.
- A treatment is targeted: it affects only a mutant, but not the WT allele.

Applications
A therapeutic for the mitigation of EEC associate corneal blindness, and/or other disorders/alterations due to the R279H mutation in the p63 gene.

Technology is available for licensing and/or co-development

Current development status

Laboratory prototypes

Applications

A treatment for EEC syndrome

Desired business relationship

Patent licensing

Joint ventures

Technology development