einstein (São Paulo). 20/Mar/2026;24(Suppl 2):eED0001.
Epidermolysis bullosa and global challenges in translational research for rare diseases
DOI: 10.31744/einstein_journal/2026Suppl_2ED0001
Rare diseases collectively affect hundreds of millions of individuals worldwide; however, each condition individually faces substantial barriers to research, innovation, and equitable access to therapies. Accelerating and promoting research in rare diseases is therefore not only a scientific necessity but also a public health and ethical imperative. Limited funding, small patient populations, fragmented expertise, and complex regulatory and reimbursement pathways frequently delay the translation of scientific advances into tangible clinical benefits, particularly outside high-income regions. Even when innovative therapies receive regulatory approval, access often remains restricted to a small number of countries, reinforcing global disparities. Epidermolysis Bullosa (EB) exemplifies these challenges while simultaneously serving as a paradigmatic model for advances in gene therapy, regenerative medicine, and precision therapeutics.
Epidermolysis Bullosa is a group of rare, inherited genetic disorders characterized by marked skin and mucosal fragility, leading to blistering and erosions following minimal mechanical trauma. EB results from pathogenic variants in genes encoding structural components of the dermal–epidermal junction, including KRT5 and KRT14 (EB simplex), LAMA3, LAMB3, and LAMC2 (junctional EB), COL7A1 (dystrophic EB), and FERMT1 (Kindler syndrome), among others. According to the level of tissue cleavage, EB is classified into four major types: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, each associated with distinct molecular mechanisms and clinical phenotypes.(-)
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