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
After the University degree obtained on March 1994 in Biology at University of Pavia, the main scientific interest of Dr D'Adamo was to identify and characterize new disease genes linked to the human X chromosome. From 1994 to 1999, she was at the CNR of Pavia working with Dr Toniolo on the identification of the genes responsible first for a rare infantile cardiomyopathy, the Barth syndrome, and then for X-linked Intellectual Disability. On 2000, she moved to the University of Zurich (Switzerland) in Prof Lipp Laboratory, where she learnt behavioural neuroscience. On 2004, she returned to Italy at IRCCS Ospedale San Raffaele in Milan, as Telethon Scientist and group leader of the Molecular Genetics of Intellectual Disabilities Unit. On 2014, Dr D'Adamo was permanently employed at Fondazione Centro San Raffaele, IRCCS Ospedale San Raffaele. Since 2004, Dr D'Adamo leed an independent group focusing on the further characterization of X-linked Intellectual Disability by using a combination of genetic, molecular, cellular and behavioral approaches.
Mignogna ML, D'Adamo P. Critical importance of RAB proteins for synaptic function. Small GTPases. 2017 Feb 1:1-13.
Morè L, Künnecke B, Yekhlef L, Bruns A, Marte A, Fedele E, Bianchi V, Taverna S, Gatti S, D'Adamo P. Altered fronto-striatal functions in the Gdi1-null mouse model of X-linked Intellectual Disability. Neuroscience 2017 Mar 6;344:346-359.
Mignogna ML, Giannandrea M, Gurgone A, Fanelli F, Raimondi F, Mapelli L, Bassani S, Fang H, Van Anken E, Alessio M, Passafaro M, Gatti S, Esteban JA, Huganir R, D'Adamo P. The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition. Nat Commun. 2015 Mar 18;6:6504.
D'Adamo P, Masetti M, Bianchi V, Morè L, Mignogna ML, Giannandrea M, Gatti S. RAB GTPases and RAB-interacting proteins and their role in the control of cognitive functions. Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:302-14.
Bianchi V, Gambino F, Muzio L, Toniolo D, Humeau Y, D'Adamo P. Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections. PLoS One. 2012; 7(1): e29763.
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010 Feb 12;86(2):185-95.
Bianchi V, Farisello P, Baldelli P, Meskenaite V, Milanese M, Vecellio M, Mühlemann S, Lipp HP, Bonanno G, Benfenati F, Toniolo D, D'Adamo P. Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training. Hum Mol Genet. 2009 Jan 1;18(1):105-17.
D'Adamo P, Welzl H, Papadimitriou S, Raffaele di Barletta M, Tiveron C, Tatangelo L, Pozzi L, Chapman PF, Knevett SG, Ramsay MF, Valtorta F, Leoni C, Menegon A, Wolfer DP, Lipp HP, Toniolo D. Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum Mol Genet. 2002 Oct 1;11(21):2567-80.
D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet. 1998 Jun;19(2):134-9.
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.