How Machine Learning Is Revolutionizing the Diagnosis of Rare Diseases

In a recent landmark scientific webinar trailblazing development in dermatological phenotyping, genetic disorders, and the transformative application of artificial intelligence (AI) in rare disease diagnostics in Italy were explored. The event convened leading experts, researchers, and clinicians, who unveiled their experience in the clinic, including the innovative use of an AI-powered called Face2Gene to significantly […]

Dr. Karen Gripp, MD, Chief of the Division of Medical Genetics at Nemours Children’s Health in Wilmington, has been at the forefront of groundbreaking research into what is now termed Fetal Fentanyl Syndrome—a novel condition observed in children exposed to fentanyl in utero in the context of a maternal opioid use disorder. This emerging syndrome […]

Dr Giulia Pascolini, an esteemed Italian M.D. and Ph.D., is currently responsible for the Genetic Counselling Service of the Istituto Dermopatico dell’Immacolata (IDI-IRCCS) of Rome and is contributing her expertise to the Rare Skin Diseases Center of the same Institute. She is also a professor of Medical Genetics at the Medicine and Surgery Faculty of […]