Erika Della Mina

Dr. Erika Della Mina earned her PhD summa cum laude from the University of Pavia, Italy, where she pioneered Next Generation Sequencing applications for complex genetic disorders. During her postdoctoral training at the Imagine Institute in Paris, she worked with Professors Jean-Laurent Casanova and Laurent Abel to uncover mechanisms behind novel inborn errors of immunity (IEI), including IRAK1, TIRAP, and IL17RA deficiencies. She subsequently joined Professor Yanick Crow’s team, contributing to the identification of key interferonopathies such as DNaseII, cGAS, and ATAD3A deficiencies.

Currently, Erika investigates the functional consequences of genetic variants in rare IEIs, specifically those affecting B cell development, maturation and function. By employing orthogonal strategies to concomitantly assess molecular, transcriptional, biochemical, and cellular readouts she works to decipher “variants of unknown significance” (VOUS). Her research focuses on defining molecular pathogenesis to drive definitive diagnoses, family screening and the development of personalised therapies.