Rett syndrome and neurodevelopmental disorders
Patrizia D'Adamo
Email: dadamo.patrizia@hsr.it
Location: DIBIT1 A2, Floor 3, Room 46
Facility manager, Mouse Behavior
Research associate, Neuroimmunology Unit
Dr. D’Adamo started her post-doc in 1994 in Human Genetics at the CNR in Pavia (Italy) where she studied a number of human disorders with X-linked inheritance, such as Barth syndrome and X-linked intellectual Disability (XLID). After the identification of X-linked genes mutated in XLID patients, she decided to further embark on the elucidation of the pathophysiological mechanisms by which GDI1 and further RAB39B disruption causes cognitive impairment. Thus, she has mastered the art of behavioral and cognitive profiling of mouse models for a neurodevelopmental disorder. Due to these career switches, she has become one of those rare scientists who has developed a wide range of disciplines that bridge human genetics and fundamental neuroscience research. In 2004, she returned to Italy at the San Raffaele Scientific Institute in Milan, as a group leader of the research Unit “Molecular Genetic of Intellectual Disabilities”. The results of her research have wider implications for other types of ID not only because RAB mediated cellular trafficking is affected by several ID genes, but also because these trafficking mechanisms are key to synaptic plasticity, which is affected directly or indirectly by most types of ID that have been solved at the genetic level.
Intellectual Disability (ID) is a common human disorder that may be one of the clinical signs of a syndrome (as in Down syndrome), or it may be associated with metabolic, mitochondrial or developmental disorders. My research activity goal is to identify new genes responsible for ID to understand the molecular pathways involved in learning and memory formation. We already identified mutations in GDI1 and more recently RAB39B genes, responsible for human X-linked ID (XLID) suggesting that vesicular traffic, mediated by RAB GTPases, is one of the pathways important for development of cognitive functions.