Anne-Marie Bisgaard is a consultant paediatrician specialized in neurodevelopmental disorders and rare diseases. She works at Center for Rett syndrome and Center for Rare Diseases at the University Hospital of Copenhagen, Rigshospitalet. Since 2011, she has been the head of the national Danish Rett center which was then established for both children and adults with Rett syndrome.
She did her PhD within the clinical genetic area in 2007 (The phenotype of patients with submicroscopic chromosomal abnormalities and mental retardation. Description of new microdeletion syndromes). Since then, her research focus has been on neurodevelopmental disorders, which in recent years mainly has been within Rett syndrome and related disorders and Cornelia de Lange syndrome. The focus is both on the molecular causes and mechanisms for disease and on clinical issues and how to manage these.
Her clinical work focuses on different rare diseases, especially Rett syndrome. Individuals with Rett syndrome are followed lifelong on a regular basis by a multidisciplinary team. The visits result in an individual report concerning medical, physiotherapeutic, behavioral and communicative issues. The families also have access to advice from a dietician and a social worker associated the center.