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S.C. SPECIALISTIC PEDIATRICS U

Principal Investigator (PI)/Coordinator: Prof. Ugo Ramenghi

Pediatric Hematology

Principal Investigator (PI)/Coordinator: Prof. Ugo Ramenghi
Principal Investigator (PI)/Coordinator: Dr. Paola Saracco, Medical Executive NHS

Team

PI contacts
Prof. Ugo Ramenghi
E-mail: ugo.ramenghi@unito.it 
Phone: +39 0113135256
Webex Room
Ospedale Infantile Regina Margherita, Piazza Polonia 94, 10126 Torino

Dr. Paola Saracco
E-mail: paola.saracco@unito.it
Phone: +39 0113135787
Webex Room
Ospedale Infantile Regina Margherita, Piazza Polonia 94, 10126 Torino

Research Activities
Participates in collaborative studies within the scientific societies AIEOP (Italian Pediatric  Hematology and Oncology), SISET (Italian Society Study on Hemostasis and thrombosis), the Italian Platelet Study Group and ISTH. The main  research activities include the studying of pathogenetic mechanisms of congenital bone marrow failures, in particular the molecular basis and possible mechanisms of remission of  Blackfan Diamond Anemia (DBA)  of which disease it is the Coordinating Center of the AIEOP Registry;  research study on lymphocytic apoptosis deficits and predisposition to autoimmune diseases, on endothelial activation markers in autoimmune diseases and in pediatric stroke. Participates to Phase 1, 2 and 3 clinical trials for drug testing in pediatric patients with hematological diseases.

Infectious diseases pediatric unit

Principal Investigator (PI)/Coordinator: Prof. Ugo Ramenghi
Principal Investigator (PI)/Coordinator: Dr. Silvia Garazzino, Medical Executive NHS

Team

  • Prof. Ugo Ramenghi, Full Professor, Head of Research Team
  • Dr. Silvia Garazzino, Medical Executive (National Health Service), Head of Research Team
  • Dr. Carlo Scolfaro, Medical Executive (National Health Service)
  • Dr. Erika Silvestro, Medical Executive (National Health Service)
  • Dr. Federica Mignone, Medical Executive (National Health Service)
  • Dr. Giulia Pruccoli, PhD Candidate

PI contacts
Prof. Ugo Ramenghi
E-mail: ugo.ramenghi@unito.it 
Phone: +39 0113135256
Webex Room
Ospedale Infantile Regina Margherita, Piazza Polonia 94, 10126 Torino

Dr. Silvia Garazzino
E-mail: silvia.garazzino@unito.it
Phone: +39 0113131704
Webex Room
Ospedale Infantile Regina Margherita, Piazza Polonia 94, 10126 Torino

Research activities
The section coordinates, together with Meyer Hospital, the Italian Registry for HIV Infections in the pediatric age. It participates in national and international trials on drugs for HIV infection in children and adolescents. It coordinates the Italian collaborative study on neurological alterations in seronegative children exposed to antiretroviral drugs as born from HIV-positive mothers. It carries out clinical research on tuberculosis caused by resistant strains. It carries out studies on encephalitis, in particular aimed at identifying genes involved in the susceptibility to HSV1e2 encephalitis and at evaluating autoimmune neurological manifestations mediated by autoantibodies to neuronal receptors for N-methyl-D-aspartate (NMDAr). It participates in the multicenter study on pediatric pharmacovigilance. It coordinates epidemiological studies on SARS-CoV-2 infection in pediatrics, on Treponema pallidum infection and on the risk of vertical transmission of syphilis. 

Pediatric Immunorheumatology Unit

Principal Investigator (PI)/Coordinator: Prof. Ugo Ramenghi
Principal Investigator (PI)/Coordinator: Dr. Davide Montin, Medical Executive NHS

Team

PI contacts
Prof. Ugo Ramenghi
E-mail: ugo.ramenghi@unito.it 
Phone: +39 0113135256
Webex Room
Ospedale Infantile Regina Margherita, Piazza Polonia 94, 10126 Torino

Dr. Davide Montin
E-mail: davide.montin@unito.it 
Phone: +39 0113131987
Webex Room
Ospedale Infantile Regina Margherita, Piazza Polonia 94, 10126 Torino

Research areas
The immuno-rheumatology research group is involved in many monocentric and multicentric projects. The main research topics are: deep immunological profiling of patient affected by Del22q11 Syndrome, immunophenotype analysis of synovial fluid in JIA; elucidating the role of endogenous retrovirus in pediatric rheumatological diseases. Furthermore, the group co-operates with the NIH (Prof.Notarangelo) for a multi-omics study of pediatric patients affected by MIS-C, and with a national project regarding precocious diagnostic biomarker in Macrophage Activation Syndrome (MAS). Finally, the group collaborates with other centers of the IPINet (Italian Pediatric Immunodeficiencies Network) for clinical research in rare primary immunodeciencies.

Pediatric Clinical Genetics

Principal Investigator (PI)/Coordinator: Prof. Ugo Ramenghi
Principal Investigator (PI)/Coordinator: Prof. Alessandro Mussa

Team

PI contacts

Prof. Ugo Ramenghi
E-mail: ugo.ramenghi@unito.it 
Phone: +39 0113135256
Webex Room
Ospedale Infantile Regina Margherita, Piazza Polonia 94, 10126 Torino

Prof. Alessandro Mussa
Email: alessandro.mussa@unito.it
Phone: +39 0113135273
Webex Room
Regina Margherita Children's Hospital, Piazza Polonia 94, 10126 Turin

Research activities
The Clinical Pediatric Genetics, in collaboration with Italian and foreign university centers, carries out research in several childhood Overgrowth Disorders:

  1. study of the molecular etiopathogenesis, genotype/phenotype relationship, evolution and natural history of Beckwith-Wiedemann syndrome and other overgrowth syndromes;
  2. clinical and molecular characterization of PROS (PIK3CA-related overgrowth spectrum) and other somatic mosaic overgrowth diseases (RASopathies, vascular pathway hyperactivation diseases);
  3. Precision medicine and drug repositioning.

Furthermore, it is involved in the diagnostics of rare genetic diseases:

  1. Next Generation Sequencing (NGS) techniques for the advanced diagnostics of rare genetic diseases, complex congenital malformations, polymalformative syndromes and new disease pictures;
  2. Syndromes with neurodevelopmental disorder and autism: diagnostics of complex clinical pictures characterized by alterations in childhood neuromotor development or autism spectrum disorders in childhood with cytogenetic approach (CGH-array) and NGS (WES) in international collaborations;
  3. Clinical and genetic evaluation of RASopathies (Noonan syndrome and others) with study of the history of the disease, definition of the genotype-phenotype relationship and of treatment opportunities.
Last update: 15/03/2022 11:03
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