Prof. Dr. Annalisa Botta has been an Assistant Professor at the Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, Italy, since 2004. Currently, she coordinates the neuromuscular group at the Medical Genetics Section of Tor Vergata University, which is one of the main Italian healthcare centers for the molecular diagnosis of rare genetic disorders. From 2015 to 2018, she was employed as a genetic counselor at Tor Vergata Hospital where she had the opportunity to develop national guidelines for the molecular diagnosis of spinal muscular atrophy and myotonic dystrophy. Her long-term commitment to this field of research is evidenced by the number of her peer-reviewed publications on the pathogenetic mechanisms of neuromuscular diseases. Moreover, she has experience in the administration of projects and management of international collaborations, being PI and co-PI for numerous grants funded by the Italian Ministry of Research, Italian Ministry of Health, Italian Telethon and AFM. Her primary focus is the characterization of human disease genes (cystic fibrosis, Thomsen disease, kidney disease, DiGeorge syndrome, psoriasis, spinal muscular atrophy and myotonic dystrophy).