18^th Global Dermatology Congress

Biography

Biography: Marcela Del Río-Nechaevsk

Abstract

Monogenic skin diseases, also known as genodermatoses, constitute about 7-8% of rare diseases and together represent a significant part of dermatology. Currently the genetic basis of more than 400 genodermatoses, have been elucidated which allows classification, molecular diagnosis, understanding their pathogenic mechanisms and finally the development of safe and effective curative evidence-based therapies treatments. As with other types of rare diseases, often the consequences of genodermatosis are devastating for the patients, their families and friends.

Genetic skin diseases comprise epithelial adhesion, keratinization, pigmentation, DNA repair, and connective tissue disorders. In this conference, the focus will be set on epithelial adhesion disorders, ie epidermolysis bullosa (EB). EB comprises a group of skin diseases characterized by defects in epithelial-mesenchymal adhesion. EB is genetically and clinically heterogeneous. Phenotypes range from mild to severe muco-cutaneous presentations. In the last years, remarkable advances in the development of innovative treatments for EB have been achieved. The strategies include, read-through drugs, cell therapy, tissue bioengineering and gene therapy approaches (viral and non-viral) employing exon skipping, gene addition and gene editing strategies among others. During the conference preclinical and clinical breakthrough from our laboratory and others will be thoroughly reviewed and discussed.