Elisabet Ars, PhD, is a laboratory geneticist and Head of the Genetics and Molecular Biology Laboratory at the Fundació Puigvert, which is a member of the European Reference Network for Rare Kidney Diseases (ERKNet) and the European Reference Network for Rare Urogenital Diseases and Complex Conditions (eUROGEN). With over 25 years of experience working in the diagnosis of genetic diseases, she has focused her translational research on improving the diagnostic yield of genetic testing for inherited kidney diseases, including cystic kidney diseases, glomerulopathies, autosomal dominant tubulointerstitial kidney diseases (ADTKD), tubulopathies, and congenital anomalies of the kidney and urinary tract (CAKUT).
She has authored more than 100 original scientific articles, as well as several reviews and book chapters. She is the organizer of the European Molecular Quality Network (EMQN) external quality assessment scheme for autosomal dominant polycystic kidney disease (ADPKD) genetic testing. She is a member of several Clinical Genome Resource (ClinGen) Kidney Disease Clinical Domain Working Groups, where she serves on expert panels for gene and variant curation, contributing to the advancement of precision medicine in nephrogenetics.