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Unravelling developmental connectopathy in 22q11.2 deletion syndrome

22q11.2 Deletion Syndrome (22q11DS) is a genetic syndrome associated with increased risk of developmental neuropsychiatric disorders such as autism, schizophrenia and attention deficit hyperactivity disorder. These conditions, as well as 22q11DS, have been found to be associated with alterations in brain structure and function. In particular, functional neuroimaging studies have revealed that 22q11DS is characterized by impaired or asynchronous communication between brain areas. Hence, one of the keys to understanding neurobehavioral manifestations of this genetic syndrome is to probe and decode the patterns of dysfunctional brain activity that emerge in people with 22q11DS. Pinpointing the origin and significance of impaired brain function in 22q11DS can also guide the development of possible targeted therapies aimed to restore impaired circuit function. Towards this goal, we designed a number of investigations in both a mouse model and human 22q11DS patients, aimed at tracking the developmental trajectory of brain function and connectivity associated with this syndrome. This research rests on robust preliminary results revealing parallel connectivity alterations across development in a mouse model and human 22q11DS. Our investigations will be aimed to corroborate these initial findings and uncover the neural underpinnings of altered brain communication in 22q11DS. In particular, we will test the hypothesis that the observed cross-species dysfunction can be explained in terms of disrupted synaptic homeostasis. Our work will also aim to identify specific genes within the 22q11.2 locus that may drive brain connectivity alterations in 22q11DS, providing opportunities for the identification of targets for novel therapies.  

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Persone coinvolte
Alessandro Gozzi
Alessandro Gozzi
Functional Neuroimaging