Speakers

Arianna Tucci is a clinician-scientist in neurogenetics and Reader in Genomic Medicine at Queen Mary University of London. Trained in Clinical Genetics, she combines clinical and genomic approaches to understand the molecular basis of neurological disorders. 

Her research focuses on DNA repeat expansions, an underexplored but clinically important class of genetic variation. She led the development of methods to detect repeat expansion disorders using short-read  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 medicine into routine clinical care. 

Her research has demonstrated that repeat expansion disorders are substantially more common than previously recognised and has identified novel genetic causes of neurological disease. She now uses large-scale genomic datasets to investigate disease penetrance, expression and genetic with the aim of understanding repeat expansion disease mechanisms, improving diagnosis and genetic counselling, and identifying new therapeutic targets for these disorders.