Arianna Tucci, MD, PhD
Queen Mary University of London
Arianna Tucci, MD, PhD, is a clinician-scientist in neurogenetics. She trained in clinical genetics and is now a reader (associate professor equivalent) in Genomic Medicine at Queen Mary University of London. Her work combines clinical and genomic approaches to understand the molecular basis of neurological disorders.
Her work centers on DNA repeat expansions, an underexplored but clinically significant class of genetic variation. She has led the development of methods to detect repeat expansion diseases from whole-genome sequencing, now implemented as a diagnostic test within the National Health Service in England. Through her work with Genomics England, she contributed to the 100,000 Genomes Project and to the integration of genomic testing into routine clinical care.
Her research has shown that repeat expansion disorders are more common than previously recognized and has uncovered novel genetic causes of neurological disease. She now uses large-scale genomic datasets to study disease expression, penetrance, and modifiers, with the aim of defining disease mechanisms and improving diagnostics and genetic counseling.