The Pediatric Rare Kidney Disease Laboratory headed by Prof. Daniella Magen is dedicated to investigating the molecular and genetic basis of rare renal disorders in children.
Rare hereditary pediatric nephropathies comprise a highly heterogeneous spectrum of diseases characterized by substantial phenotypic diversity, incomplete penetrance, and frequently unresolved pathogenic mechanisms.
Despite major advances in genomic medicine, a significant proportion of pediatric kidney disorders remain incompletely characterized at both the molecular and mechanistic levels, limiting diagnostic precision and therapeutic approaches. The laboratory adopts a fundamentally phenotype-driven, patient-centered research strategy, based on the principle that individual diseases, and often individual patients, represent biologically distinct entities requiring tailored investigation.
Rather than relying solely on conventional diagnostic classification, we perform detailed longitudinal characterization of unique clinical phenotypes, integrating clinical observation with genomic, molecular, and functional analyses to uncover previously unrecognized pathogenic mechanisms of unexplained renal injury and disease progression. Our research combines advanced genomic approaches, rare variant analysis, transcriptomic profiling, and functional studies in patient-derived cellular systems, with comprehensive clinical phenotyping. Particular emphasis is placed on integrating human disease investigation with mechanistic experimental approaches in order to establish biologically meaningful links between molecular perturbations and clinical manifestations.
Beyond improving molecular diagnosis in children with rare kidney disorders, our laboratory aims to generate broader insights into fundamental renal biology and the molecular mechanisms underlying kidney injury and disease progression, with implications that may extend beyond rare pediatric diseases.
Meet the MagenLab Team