Angela Peron (Italy)

Associate professor of Medical Genetics at the University of Florence (Italy), an attending physician in clinical genetics at the Division of Medical Genetics at Meyer Children’s Hospital in Florence (Italy), and an adjunct associate professor of Paediatrics at the University of Utah in Salt Lake City (US). She completed her residency in Medical Genetics at the University of Milan in 2015 and obtained a PhD in Clinical Research from the same university in 2021.Her clinical interests include dysmorphology and genetics of neurodevelopmental disorders in children and adults. Her research focuses on Tuberous Sclerosis and the genetic causes of ultra-rare syndromes, autism, and epilepsy. She developed an interest in ring 20 syndrome while working with Prof. Maria Paola Canevini and Prof. Aglaia Vignoli, and focuses on phenotypic delineation and the application of genomic technologies to understand the pathogenesis and variability of this condition. She joined the ring 20 Scientific Advisory Board because she strongly believes that this rare condition should be better known worldwide, and she would like to be an advocate for this. She also hopes that one day the new -omics technologies will shed light into the yet unknown mechanisms of ring 20 syndrome with the ultimate goal of helping more and more patients.