Catia Scassellati

Dr Catia Scassellati’s recent research activity has been dedicated to the fields of genetics, pharmacogenetics and molecular biology of the main psychiatric/neurodegenerative disorders in adulthood and in childhood. She conducted numerous case-control association studies on candidate genes for susceptibility to Major Psychoses, in the endeavour to clarify the role of the genes linked to some neurotransmitter systems (serotonin, dopamine), cytokines, and neurodevelopmental factors. In particular, preferential associations emerged between schizophrenia and bipolar disorder symptomatology and some functional polymorphisms for the genes SLC6A4, TNF-alpha, IL-10, IL-1, GDNF, GSK3beta. She also investigated the polymorphic variants of genes encoding for cytokines in patients suffering from the sporadic form of Alzheimer (AD) disease. These studies yielded evidence of preferential associations between susceptibility to AD and functional polymorphisms of the interleukin-10 genes. More recently, she conducted different studies (including reviews, meta-analyses and functional genomics approaches) that have permitted to identify a signature of potential genetic and biochemical markers associated to diagnosis and treatment of Attention Deficit Hyperactivity Disorder (ADHD) in childhood and in adulthood. Moreover, a structural and functional analysis was conducted on children with ADHD related to the 15q13 deleted region.