Prof. Annalisa Botta’s primary focus is the characterization of human-disease genes (Cystic Fibrosis, Thomsen disease, kidney disease, DiGeorge syndrome, psoriasis, spinal muscular atrophy and myotonic dystrophy). Prof. Botta spent her undergraduate and early postgraduate years studying genetics of Cystic fibrosis, Thomsen disease and DiGeorge syndromes. She continued her work on DiGeorge Syndrome becoming Research Assistant at Baylor College of Medicine in Houston, Texas. She collaborated with Prof. Allan Bradley to develop the first mouse model of DiGeorge syndrome using the Cre-LoxP technology. In 2001 she was funded by Telethon Institute as independent researcher to carry out a two-year project to understand the molecular basis of Di George Syndrome. In 2004, Prof. Botta became Assistant Professor at Tor Vergata University of Rome, Medical Genetic Section. This unit undertakes a broad spectrum of research from the basic mechanisms of genetic diseases to translational projects involving gene therapy strategies and novel diagnostic methods for prenatal diagnosis. Currently, she coordinates the neuromuscular group at the Medical Genetics Section of Tor Vergata University, which is one of the main Italian health care centres for the molecular diagnosis of rare genetic disorders. In this period, she started two lines of research in the neuromuscular disease field: spinal muscular atrophy (SMA) and myotonic dystrophies (DMs). From 2015 to 2018 she has also been employed as a genetic counselor at Tor Vergata Hospital where she had the opportunity develop national National Guidelines for the molecular diagnosis of spinal muscular atrophy and myotonic dystrophy. Her long-term commitment to this field of research is witnessed by the number of peer-review 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. Since 2004, she has been also teaching professor of Medical Genetics courses (both in Italian and English language) in the Faculty of Medicine at Tor Vergata University of Rome.