A CONDITIONAL MOUSE MODEL FOR ANHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY

Ectodermal dysplasia with immunodeficiency (EDA-ID) is a rare genetic disease caused by mutations in a gene called NEMO. Patients with EDA-ID display abnormalities in skin, hair and teeth and suffer from severe, often life threatening, recurrent infections due to immune deficiency. Although we know the mutations causing this disease, the knowledge of how the disease develops is still missing. In this project we aim to investigate the pathogenesis of EDA-ID using an experimental model for this disease developed in mice. Using this approach we aim to study how the disease develops in mice aiming to understand the mechanisms that lead to the multiple defects caused by these mutations. By learning how the disease develops in mice we hope to be able to understand better the human disease and ultimately we might also be able to propose new therapeutic protocols. For this reason, we will also investigate if the disease that develops in mice can be treated using a specific class of antibiotics, aminoglycosides, which have the ability to suppress certain genetic mutations. Therefore, the aim of our research is to understand how EDA-ID develops and to attempt to evaluate potential therapeutic protocols that could be used in human patients suffering from this genetic disease. This project is thus directly relevant to Telethons commitment for research on the pathogenesis and treatment of rare genetic diseases.