Molecular genetics of Intellectual disabilities

Molecular genetics of intellectual disabilities

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Group leader

Patrizia D'Adamo

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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. A large group of ID includes the non-specific forms whose only consistent clinical manifestation is the mental handicap.

Research Activity

The goal of our group is to identify new genes responsible for ID to understand the molecular pathways involved in learning and memory formation. We 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. Our scientific approach is to combine between genetic, functional and behavioural studies to understand the molecular mechanism altered by the absence of the two genes leading to synaptic dysfunction and cognitive impairment.