Genetic-molecular profile of patients with Epidermolysis Bullosa using next-generation sequencing

• Grant number: 17/07511-1
• Support Opportunities: Scholarships in Brazil - Master
• Start date: April 01, 2018
• End date: June 30, 2019
• Field of knowledge: Health Sciences - Medicine
• Agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal Investigator: Leslie Domenici Kulikowski
• Grantee: Amom Mendes Nascimento
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Epidermolysis Bullosa (EB) is a clinical and genetically heterogeneous group ofhereditary diseases caused by mutations in different genes that encode skin proteins.It is characterized by the intense fragility of minimal traumas leading to the recurrentappearance of blisters on the skin and mucosa. It can be classified into four maintypes (simple EB, EB Junctional, dystrophic EB and Kindler's syndrome), and eachmajor type of EB can be further divided into specific subtypes based on ultrastructuralcharacteristics, genetics, inheritance and clinical manifestations. Although, it is a raredisease, EB compromises the quality of life of patients and their families. The presentstudy proposes the application of the next-generation sequencing (NGS) technique inthe investigation of causal mutations in patients with EB.This study can provide unprecedented information for better understanding of EB inBrazilian patients and also contributing for built an adequate diagnosis and geneticcounseling. (AU)