512 Determining the genetic basis of epidermolysis bullosa symptoms through genotype-phenotype associations and NGS

Among rare diseases, one of the most dramatic examples is Epidermolysis bullosa (EB), due to the extreme skin fragility these patients have. This disorder its characterized by its large genetic and clinical heterogeneity, caused by mutations in 18 genes and resulting in more than 30 different clinical subtypes, which enormously difficult its diagnosis and prognosis specially at the neonatal period where they all look very similar. We hypothesize there is a genetic basis for some-if not all-phenotypic variation observed in these patients.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation and Gene Therapy Source Type: research