Rossella Tupler is a medical geneticist, expert in the molecular genetics of degenerative diseases. Her laboratory at the University of Modena and Reggio Emilia, Modena, Italy, contributed significantly to the study of the molecular basis of facioscapulohumeral muscular dystrophy (FSHD). The laboratory studies the role of repetitive D4Z4 elements in the chromatin organization of the subtelomeric region of chromosome 4q and studies the mouse model of FSHD. Moreover, the laboratory is the Italian reference center for the molecular diagnosis of FSHD. Rossella Tupler coordinates the Italian clinical network for FSHD and is curator of the Italian National Registry for FSHD. The registry collects the standardized clinical evaluations of more than 4,000 subjects.