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Italian National Node Institutions

Consiglio Nazionale delle Ricerche (CNR)

CNR is the largest public research institution in Italy, the only one under the Research Ministry performing multidisciplinary activities. Founded as legal entity on 18 November 1923, CNR’s mission is to perform research in its own Institutes, to promote innovation and competitiveness of the national industrial system, to promote the internationalization of the national research system, to provide technologies and solutions to emerging public and private needs, to advice Government and other public bodies, and to contribute to the qualification of human resources. In the CNR’s research world, the main resource is the available knowledge, which means people, with their skills, commitment and ideas. This capital comprises more than 8.000 employees, of whom more than half are researchers and technologists. Some 4.000 young researchers are engaged in postgraduate studies and research training at CNR within the organization’s top-priority areas of interest. A significant contribution also comes from research associates: researchers, from Universities or private firms, who take part in CNR’s research activities. CNR participate to EPTRI-IT with the following 13 Institutes:

Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari (IBIOM)

The main research activities concern the structural and functional characterization of known or newly identified genes and proteins, involved in mitochondrial biogenesis and energy metabolism, particularly the respiratory chain complexes and mitochondrial carriers, the cellular regulation of these systems and their role in cellular homeostasis, the role of mitochondria in cell differentiation and apoptosis, and mitochondrial alterations in both hereditary and degenerative aging.

EPTRI-related research activities:

  • Role of mitochondria dysfunction in intellectual disability-related neurodevelopmental diseases and identification of natural drug candidates for prenatal and early infancy intervention: preclinical and clinical studies.
  • Molecular mechanism of rare genetic metabolic diseases: analysis of mitochondrial function and regulation as well as the origin of oxidative stress in primary fibroblast cell cultures and in conditionally immortalized proximal tubular epithelial cells.
  • Bioenergetic and metabolomic analysis in appropriate cell types (e. g., neurons, motorneurons) differentiated from induced pluripotent stem cells (iPSCs) reprogrammed from patients’ cells, such as skin fibroblasts or peripheral blood monocytes.
  • High throughput sequencing (exome, transcriptome, miRNome) in pediatric diseases.
  • Personalized approach to reduce obesity and prevent obesity-related comorbidities in children.
  • Search of new predictive molecular biomarkers for pediatric pathologies.

Istituto di Biologia e Patologia Molecolari (IBPM)

The IBPM research is mainly focused on biological macromolecules and bioactive compounds approached through experimental and computational methods to identify macromolecular targets and determine their 3D structure, dynamics, regulation, function and evolution. Moreover, peptide and organic molecules able to modulate the activity of proteins and nucleic acids involved in cancer, neurodegeneration and other human pathologies are computationally designed, chemically synthesized and characterized for their physical-chemical, biochemical and cellular properties. Another research area of IBPM focuses on the study of gene expression regulation during normal cell differentiation, development and disease. The researchers of IBPM study also physio-pathogenic mechanism in differentiation, specifically in terms of the molecular mechanisms underlying human physiology to discover how their deregulation drives to pathological conditions.

EPTRI-related research activities:

  • Identification, structural/functional characterization and validation of proteins and/or noncoding RNAs as new therapeutic targets or biomarkers for early diagnosis of paediatric diseases, including: oncological pathologies (medulloblastoma, neuroblastoma and rhabdomyosarcoma), neurological pathologies (hereditary spastic paraplegia and rare neurodegenerative pathologies, juvenile Huntington disease, autism spectrum disorders, vitamin B6-dependent neonatal epileptic encephalopathy); musculoskeletal pathologies (Duchenne muscular dystrophy).
  • Characterization of target-based small molecules and peptides with pharmacological potential.
  • Design of nanodevices and AAV-based systems for drug delivery.

Expertise:

  • In silico identification of biomarkers from HTS data, peptide designing, protein structural modelling and virtual screening.
  • Dissecting mechanisms controlling gene expression at epigenetic, transcriptional and post-transcriptional levels.
  • Unveiling the role of non-coding RNAs in cell (patho)physiology and as potential biomarkers/drug targets.
  • Production and structural-functional characterization of wild-type and mutated proteins for drug discovery.
  • Testing drugs on cell models by advanced microscopy.
  • Generation and characterization of Drosophila models of human diseases.
  • Designing nanodevices and AAV-based systems suitable for drug delivery.
  • Training

Istituto di Farmacologia Traslazionale (IFT)

The researchers are deeply involved in carrying out research programs and projects on translational pharmacology with a wide spectrum of preclinical and translational investigations aimed at understanding the complex mechanisms of disease and related targeted therapy action, with a particular attention to cancer, neurological disorders, infectious and inflammatory diseases, and to their application in clinical practice.

EPTRI-related research activities:

  • Hereditary neurodegenerative disorders with early or late onset (Laboratory of Neurogenetics).
  • HLA typing for organ Transplantation (laboratory of Immunogenetics).
  • Preclinical studies on Nerve Growth Factor (NGF) as therapeutic for paediatric traumatic brain injury (TBI) and early clinical studies on NGF delivery in children affected by optic glioma or TBI (Laboratory of Neuropharmacology).
  • Pediatric Oncology and Rare Pediatric Immunological Diseases: Wiscott Aldrich Syndrome, WAS (Laboratory of Cytomorphology and Preclinical Molecular Analysis).
  • Cross-disease analysis of the molecular aspects underlying motor neuron degeneration in Spinal Muscular Atrophy (SMA) and other motor neuron diseases to identify common targets to be tested in preclinical models (Laboratory of Molecular Mechanisms of Neurodegenerative Diseases).
  • Study of the endocannabinoids, endogenous bioactive fatty acid amides and glycerol in pediatrics (Laboratory of Endocannabinoids and endogenous bioactive lipids).
  • Identification of novel mediators and biomarkers for the development of new treatments for pediatric inflammatory diseases.
  • Pre-clinical and clinical NK and CAR-T cell-based cancer immunotherapies (Laboratory of Cancer Immunology and Immunotherapy).

Facilities and Research Infrastructure

  • Neurogenetics: Screening for mutations: triplet repeats analysis, DNA sequence analysis for point mutations, screening for gross expansion or deletions by Multiplex ligation-dependent probe amplification (MPLA), DNA biobank of patients with rare disorders and control, genotype-phenotype correlation, and identification of new peripheral biomarkers for disease progression and therapy in HD and FRDA.
  • Neuropharmacology: an animal model of TBI, animal model of hypoxic-ischaemic brain injury, identification of novel surrogate biomarkers and therapeutics for pediatric TBI.
  • Immunogenetics (Rome and L’Aquila): PCR allelic identification of HLA class I, class II, HLA-G, non-MHC classic molecules by Sequence-based typing, genotyping/allelic discrimination (RealTime).
  • Cellular models of neuroblastoma; the immunostimulating activity of biomolecules and natural compounds on primary cultures of macrophages.
  • Animal models of motor neuron degeneration. Chemistry, biochemistry, and molecular biology of lipids.
  • Atypical CAR-T cells, Allogeneic NK cells: clinical-grade production of immune cells, in collaboration with FaBio Cell, GMP Facility (Istituto Superiore di Sanità).
  • A platform for the analysis of pharmacologic toxicity in vitro.

Istituto di Neuroscienze (IN)

The mission of the CNR Neuroscience Institute (IN) is to promote the comprehensive knowledge of structural and functional aspects of the nervous system. In particular, the research activity of the IN-CNR is strongly devoted to developmental neurobiology and aims at increasing our knowledge on pathogenic mechanisms that underpin the etiology of pediatric brain disorders. Milano and Cagliari sections of the IN have a strong background on cellular biology and pharmacology applied to neuroscience. The main goal of their studies is to understand how genetic defects or environmental insults perturb neuronal circuit formation and maturation, ultimately resulting in neurodevelopmental disorders, such as intellectual disability (Angelman syndrome), autism spectrum disorders (Rett and Phelan-McDermid syndromes), schizophrenia, epilepsy (CDKL5, Dravet and PCDH19 syndromes) and immune synaptopathies (MIA, poly I: C, IL6 and IL1 models). The section of Pisa has a long-standing tradition in the visual system and its functional architecture, and in pathological conditions of the retina and visual cortex, as well as in metabolic syndromes of pediatric onset (creatine transporter deficiency syndrome). Interdisciplinary and complementary approaches, ranging from electrophysiology, genetic and biochemistry to advanced imaging and behavior are exploited to dissect the molecular bases of these as-yet incurable diseases, discover novel disease biomarkers and test innovative therapeutic strategies.

Facilities and Research Infrastructure:

The IN is a leading institution in the field of pre-clinical neuroscience. The available technical and scientific knowledge, combined with the state-of-the-art instruments, ensures high quality research products. The wide portfolio of facilities comprises setups for in vitro and in vivo electrophysiological studies, advanced imaging including intravital, super-resolution (STED) and electron microscopy, reprogramming of patient-derived induced pluripotent stem cells (iPSCs) and generation of human neurons, fully equipped surgical (e.g., stereotaxic injection and intero electroporation) and behavioral testing rooms, flow cytometry and animal houses.

Istituto di Biostrutture e Bioimmagini (IBB)

The combination of design and testing expertise, both in vitro and in vivo, of new diagnostic and therapeutic agents with expertise in multiple imaging modalities provide the interdisciplinary bases to carry out a truly innovative research in the field of molecular imaging and personalized therapy. The IBB has a consolidated experience in the research of biomarkers of various pathologies, design and synthesis of molecules able to interact with certain biomarkers and preclinical validation of the molecules developed. Another research area developed by IBB is e-health to create open-source software systems, consisting of models, services and tools to support diagnosis, therapy and follow-up, as well as for the innovative management of health processes.

EPTRI-related research activities:

Identification, production and biochemical and structural characterization of Paediatric Target Proteins; HT biophysical and biochemical screening; synthesis and validation of New Molecular Entities and libraries; in vivo studies.

Several research projects of paediatric interest, including:

  • Investigation of the physiopathology of hydrocephalus in the pediatric patients in agreement with the Santobono-Pausilipon Children’s Hospital of Naples by jointly developing an automated MRI-based method for volumetry of brain tissues
  • Functional and structural studies to understand the mechanism of action of proteins overexpressed in B-cell type acute lymphoblastic leukemia.
  • Structure/function correlation of protein targets involved in the insurgence of paediatric diseases and rational design of therapeutic molecules.
  • Structural characterization proteins involved in pediatric solid tumors (Neuroblastoma and Medulloblastoma), by modern NMR techniques, computer modeling and X-ray crystallography.
  • Discovery, optimization and characterization of potential therapeutic compounds targeting proteins involved in pediatric solid tumors, by NMR-based strategies for drug discovery.
  • Development of vaccines and protective antibodies for pediatric use against enterococcal infections.
  • Identification of compounds targeting the Sam domain of EphA2 and its interactome and evaluate their anticancer potentials.

Facilities and Research Infrastructure

  • Labs for protein and peptide synthesis, fully equipped with instruments as Incubators, FPLCs, LC-MS/MS, micro and nano HPLC.
  • Labs for biophysical characterization of biomolecules, equipped with fluorimeters, CDs, MST, UV-Vis/fluorescence multi-well readers, label-free tools as ITC, SPR, Fluorescence microscopes, NMR 600 Mhz with cryoprobe, LC-MS, nHPLC, FT-IR, X-ray diffractometer, HTS and HT crystallography, DLS, FPLCs.
  • Preclinical Imaging Laboratory as RM High Field, MRI-PET, Micro-CT, Micro-MRI, Micro-PET / CT, Micro-US, Optical Imaging and related post-processing of images. Facility for relaying, surgical manipulation and preparation of animal models. Cell Culture Facility.

Istituto di Genetica e Biofisica (IGB)

The IGB-ABT research aims at understanding the molecular basis controlling genetically and epigenetically the cell state and cell identity during embryonic development and post-natal life in normal and pathological conditions. Main activities consist of studies of human genetics, stem cell biology, embryogenesis and organogenesis, neurobiology, angiogenesis, immunology, molecular oncology. EPTRI-related research activities:

  • The IGB-ABT research aims at understanding the molecular basis controlling genetically and epigenetically the cell state and cell identity during embryonic development and post-natal life in normal and pathological conditions. Main activities consist of studies of human genetics, stem cell biology, embryogenesis and organogenesis, neurobiology, angiogenesis, immunology, molecular oncology.
  • The specific research activities related to EPTRI are:
  • Investigations on the pathogenesis of rare pediatric disease including Incontinentia pigmenti, Rett syndrome, XLID and epileptic pediatric patients.
  • Development of humanized animal model for rare disease (mouse and cells including mouse embryonic stem cells).
  • Design of molecular gene targeting; gene editing by homologous recombination; microinjection in blastocysts; analysis of germ line transmission; rederivation of murine strains.
  • Studies of the molecular mechanisms controlling cellular function at the genetic and epigenetic levels from the first phases of the embryonic development to complete organogenesis and post-natal life both in physiological and pathological states.
  • Collection of patients derived biological samples (DNA, RNA, cells, biopsies). Analysis of NGS data.

Facilities and Research Infrastructure:

  • The Biological Research Center of the IGB (Centro di Risorse Biologiche, CRB-IGB) is an infrastructure that coordinates the IGB biobanking activities developed in the context of the translational medicine research projects. The CRB-IGB is an important resource in the field of biomedical research, assuring the access to / deposit of paediatric biological samples and related data.
  • The Embryonic Stem Cells and Mouse modeling (SCMM) at IGB-ABT, CNR.
  • The SCMM at the Institute of Genetics and Biophysics “Adriano Buzzati-Traverso” runs a fee-based service of genome editing into Embryonic Stem Cells (ESC) by means of homologous recombination. The facility is opened to internal, external academic and non-academic users.

Istituto di Biochimica e Biologia Cellulare (IBBC)

The main research topics are: advanced morphology, imaging and microscopy, biosensors; biochemistry; cell and molecular biology focused on intracellular signaling in cancer and rare diseases; immunology; molecular oncology and pathology with the aims of identification of molecular targets and drug development; murine models; biology and pathology muscle-related; neurobiology and pharmacology.

EPTRI-related research activities:

  • Cellular and molecular biology, biochemistry, immunology, neurobiology, pharmacology, molecular oncology, pathology and aging.
  • EuroBioimaging European infrastructure, Infrafrontier-Emma European infrastructure.

Several research projects of paediatric interest, including:

  • Interaction of food proteins and microorganisms with gastrointestinal immune system in health/disease (celiac and inflame. bowel diseases, in particular in pediatric subjects).
  • Generation of Gpr37l1-/-/Ptch1+/- and Ccdc151-/- mouse lines, as novel medulloblastoma (MB) and primary ciliary dyskinesia (PCD) GA models. Generation of new MB GA models (Ptch1+/-/Tis21-/-; Ptch1+/-/Btg1-/-).
  • Behavioural phenotyping of animal models of genetic pediatric rare disorders: lysosomal storage disorders (MPS), pump disease etc. Translational experiments addressing the systemic and intra-brain gene and small molecules therapies in these diseases.
  • EMMA-Infrafrontier’s unique collection of generated/archived/distributed mutant strain models: currently hundreds of strains, with specific mutations of genes involved in more than 1200 distinct pathologies, incl. paediatric diseases (infrafrontier.eu/emma-strains-and-diseases).

Facilities and Research Infrastructure:

  • CNR-Monterotondo EMMA Core Structure and INFRAFRONTIER-IMPC Mouse Clinic: state-of-the-art facilities, equipment and procedures for large-scale, standardized production, phenotyping, specific-pathogen-free derivation/breeding, cryopreservation/distribution of mutant, in vivo models of human diseases, with their bioinformatics resources.
  • CNR-Naples EuroBioImaging facility: services in advanced light and electron microscopy, label-free and correlative imaging techniques, development of novel microscopy reagents (super-resolution imaging and FLIM analysis) and technologies; state-of-the art, constantly renovated/upgraded instrumentation and techniques.

Istituto di Endocrinologia ed Oncologia Sperimentale (IEOS)

The mission of the Institute for Experimental Endocrinology and Oncology (IEOS) “G. Salvatore” is to improve the knowledge in the fields of Metabolism, Immunology and Oncology and to favour synergies among these different themes to create opportunities for translational biomedical research.

EPTRI-related research activities:

EPTRI-related research activities encompass, the study of cellular and molecular processes at basis of pathogenetic mechanisms of immunological, metabolic and oncologic diseases; identification of circulating biomarkers in paediatric diseases, including type 1 diabetes (T1D), paediatric cancers (eg. glioblastoma and acute lymphoblastic leukemia) and neurodegenerative (Ataxia Telangiectasia).

Facilities and Research Infrastructure:

  • Flow cytometry and Cell Sorting Facility.
  • Seahorse Extracellular Flux Analyzer Facility, allowing simultaneous measurement of the two   major energy producing pathways -mitochondrial respiration and glycolysis- in live cells.
  • Biobanks of biological samples of patients affected by Type 1 Diabetes and paediatric cancers.

Istituto per la Ricerca e l’Innovazione Biomedica (IRIB)

The main research areas range from neuroscience to rare diseases through molecular and cellular biology and biotechnology, and genomic precision therapy. The mission of IRIB is the development of new diagnostic approaches and innovative therapeutic solutions. Basic science studies are flanked by an intense clinical activity in the fields of pneumology and rare genetic diseases including lysosomal storage disorder. A biobank is also available which collects more than 8000 DNA samples from patients with different genetic diseases and 12000 cell lines.

EPTRI-related research activities

  • IRIB is engaged in research on basic biological mechanisms and translational research. The main activities are:
  • Advanced Respiratory Pathophysiology (lung clearance, respiratory impedance, exhaled nitric oxide etc).
  • Genetic and proteomic advanced analysis of pediatric neurological diseases (neurofibromatosis, neuromuscular disorders, epilepsies, ataxias, mitochondriopathies, Tay-Sachs, McArdle).
  • Clinical trials (phase 3 and 4 studies) and birth cohorts (management, recruitment and characterization).
  • Immunological profile (phenotype and function).
  • Isolation and characterization of vesicles.
  • 2D/3D cellular models and organoids: -nanoparticles for drug delivery, hit optimization, hit-to lead and lead optimization stages.

Facilities and Research Infrastructure:

  • High-throughput screening, high-content imaging and high-content screening for identification of hit compounds (TR-FRET, automated microscopy), Real Time PCR, Flow Cytometry, mass spectrometry, immunoenzymatic assays (also with electrochemical nanosensors), cellular imaging.
  • High Throughput and high precision virtual screening, protein-protein interactions assessment, Chemical Databases creation and optimisation, computer-assisted molecular design, high-throughput data analysis, biological interactions network analysis.
  • -DNA biobank (neurofibromatosis, neuromuscular disorders, epilepsies, ataxias, mitochondriopathies).
  • High Throughput DNA and RNA sequencing (ready panels for neurofibromatosis, neuromuscular disorders, epilepsies, ataxias, mitochondriopathies).
  • EBV-lynphocyte-immortalization.
  • iPSC generation by nucleofection.
  • Ecological settings called HomeLabs equipped with stereo cameras and a software technology for positional tracking, wearable sensors to measure physiological responses and eye tracking technologies to measure stimuli-induced visual responses in ecological, real life settings.

Major skills:

Data bank management: -Collection of biological samples (maternal and cord blood, placental tissue, peripheral blood mononucleated cells, fibroblasts, lymphoblasts, etc) also by non-invasive techniques (exhaled breath condensate, nasal lavage, exhaled nitric oxide etc); -DNA sample by non-invasive methods (buccal brush of asthmatic children); DNA sample for DNA polymorphisms of rare diseases (lysosomal storage diseases: Fabry, Pompe and Gaucher) in peripheral blood.

Istituto di Ricerca Genetica e Biomedica (IRGB)

Its goal is understanding the causes and the mechanisms underlying diseases with a genetic component, both with simple and complex pattern of inheritance. The research projects analyse the consequences of genetic variation, up to the sequence of the whole genome, on phenotypes of biomedical relevance, with subsequent follow-up targeted functional studies both in vitro and in vivo in appropriate animal models. Particular emphasis is given to analysis of the structure of the study populations and to the joint analysis of discrete traits (diseases) and continuous quantitative traits (or endophenotypes) related to the diseases of primary interest and examined in large cohorts of thousands of individuals.

Research Areas

Milano

  • Genetic and pathophysiology of inherited immune disorders.
  • Genetic and pathophysiology of inherited bone disorders.
  • Genetic and pathophysiology of inherited heart disorders.
  • Pathophysiology of bacterial infection: role of mucosa immunology.
  • Preclinical models of novel therapy including gene therapy and gene editing to cure immune deficiency.
  • Preclinical models of novel therapy including gene therapy to cure bone defects caused by defects in osteoclast activity.
  • Preclinical models including mouse models to analyse the pathophysiology of inherited heart defect.
  • Generation of Induced pluripotent stem cells (iPSC) as platform to study pathogenetic mechanisms and test novel therapies.
  • Chromosome transfer in Induced pluripotent stem cells (iPSC).
  • Gene editing platform in human CD34 cells

Cagliari:

  • Preclinical models of Beta thalassemia and malaria.
  • Application of computational methods based on mathematical/computational methods to analyze, model, and predict potential toxicological or side effects of chemical structures (peptides, drugs, metabolites, or organics) in biological systems.

Sassari:

  • Mechanisms of oncogenesis: Genomic and transcriptomic profile of tumors.

Facilities and Research Infrastructure

Cagliari:

  • Computational toxicology.
  • Animal Facility.

Milano:

  • iPSC generation and characterization.
  • Animal Facility.
  • Flow cytometric analysis.
  • Microscope facility.
  • Computational platform.

Sassari:

  • NGS platform

Istituto di Tecnologie Biomediche (ITB)

The research projects of the institute are on omics technologies, bioinformatics, stem cell research, oncology, neurodegenerative disorders, human microbiome and bioethics. The ITB works to translate the fundamental scientific discoveries into new technologies.

EPTRI-related research activities:

Different diseases with onset in pediatric ages are under investigation, such as Multiple Sclerosis, Spinal Muscular Atrophy, Attention Deficit/Hyperactivity Disorder, Autism, Wiskott–Aldrich syndrome, Duchenne dystrophy, and others. The main ITB activities are addressed to pediatric medicine discovery, search of biomarkers, developmental pharmacology. The expertise involved are here summarized:

  • Next-Generation Sequencing (NGS)-multi-omics including single cell-transcriptomics and linked reads whole genome sequencing;
  • Molecular modeling and drug design;
  • Computer science in high performance computing (HPC), cloud computing;
  • Advanced cellular models (iPSCs and organoids);
  • Proteomic analysis combined with Systems Biology;
  • Development, management and integration of specialized databases and advanced systems for the integration and structural/functional annotation of “omics” data;
  • Software development, pipeline/workflow and web-based bioinformatics/biostatistics platforms for the analysis of High-Throughput NGS and microarray data;
  • Artificial Intelligence models applied to biomedical data.
  • The ongoing financed pediatric projects include:
  • European project “GEMMA-multi-omics research in autism” with a particular focus on the intestinal microbiome (https://www.gemma-project.eu/ (funding 14.2 million Euros).

Facilities:

  • IT platforms (Cloud Computing ~ 10,000 cores, ~ 80 TB Ram, ~ 5Pb Disk, storage 18Pb).
  • Platform for massive production of “omics” data (e.g., Novaseq 6000, PacBio Sequel, BioNano Saphyr, 10X Genomics).
  • Web bioinformatics platform to investigate circulating biomarkers.
  • Clinical proteomics platform, based on mass spectrometers coupled to mono- and bi-dimensional nanocromatographs (5 LC-MS/MS systems).
  • Computing systems (MapRoma, Prindex, Cytoscape) to characterize differential proteins and pathways.

Istituto di Genetica Molecolare Luigi Luca Cavalli-Sforza (IGM)

It is a multidisciplinary center for the study of both normal and pathological cells with a systemic approach. Their research is focused on understanding the molecular mechanisms underlying various pathological conditions such as cancer, premature aging, genetic diseases and viral infections. The approach consists in the study of the alterations of the genome and how these affects cellular metabolism, and the coordinated functions between cells of tissues and organs.

EPTRI-related research activities:

  • IGM is engaged in research on basic biological mechanisms and translational research. The main activities are:
  • cell biology and pathology of the nucleus and laminopathies: Emery-Dreifuss Muscular Dystrophy, LMNA-RELATED Congenital Muscular Dystrophy, TYPE2 Familial Partial Lipodystrophy, Mandibuloacral Dysplasia, Hutchinson-Gilford Progeria Syndrome.
  • cell biology, pathology and genetic analysis of NER-defective disorders: Xeroderma Pigmentosum, Trichothiodystrophy, Cockayne syndrome.
  • cell biology and pathology of the extracellular matrix: Bethlem Myopathy, Ullrich Syndrome.
  • cell biology of bone precursors in biomaterials.
  • microanalysis of synovial tissue in failed orthopaedic implants;
  • functional genomics and high-throughput screening for paediatric use.
  • IGM coordinates the Italian Network for Laminopathies: http://www.igm.cnr.it/1/laminopatie/

Facilities and Research Infrastructures

Facilities:

biobank of cell and tissue paediatric samples from laminopathic patients and myopathies (BioLaM, Bologna) and collection of paediatric bio-samples from NER-defective patients (Pavia).

Major skills:

  • drug screening in cell cultures from skin, adipose tissue, muscle and bone biopsies;
  • Ultrastructural analysis (TEM and SEM);
  • confocal microscopy analysis of disease target proteins;
  • PPI studies of mutated proteins;
  • secretome profile in serum and cell culture media;
  • causative genes and pathological variants for NER-defective disorders;
  • cellular response to UV light or other stress-inducers;
  • disease-specific biomarkers for diagnostic or therapeutic strategies.

Istituto di Nanotecnologia (NANOTEC)

EPTRI-related research activities:

CNR NANOTEC develops different technological platforms with important implications in pediatrics. The main research areas are:

  • Lab on Chip and Organ on Chip systems to reproduce in microformat the crucial physio-/pathological functions of living human organs and used to identify and validate biomarkers and to develop personalized/precision treatments. Applications include the Shwachman-Diamond syndrome and cystic fibrosis.
  • Nanoparticles for therapy and imaging, in which nanovectors are used to improve the targeted delivery of specific agents such as growth factors, proteins, peptides, DNA, RNAi and small-molecule drugs. Applications range from cancer therapy to gene therapy.
  • Ultrahigh sensitivity biosensors for the detection of analytes in liquid samples, in which molecular probes are combined with advanced micro- and nanostructures for the study of molecular and cellular processes, point-of-care diagnostics, healthcare monitoring.
  • Advanced imaging based on X-ray Phase Contrast Tomography offering 3D multi-scale imaging from the cellular level to whole organs at high resolution and contrast. Applications include the detailed mapping of neuronal and vascular networks in diseases of the central nervous system.

Facilities and Research Infrastructures

CNR-NANOTEC (http://nanotec.cnr.it) is a multidisciplinary research center with more than 200 researchers from physics, chemistry, biology, medicine and engineering. The main divisions are i.) Advanced Devices, ii.) Materials Science, iii.) Modeling and Computation, iv.) Nano-Biotechnology, v.) Photonics & Optoelectronics, vi.) PlasmaCheM.

The institute boasts state of the art instrumentation for nanofabrication and characterization, including a fully equipped biology lab. Collaborators include Imperial College, Cambridge University, Maastricht University, San Raffaele Hospital, Pediatric Hospital Bambino Gesù, EBRI Institute. Nearly all research activities are supported from external funds, among which are several awards from the ERC and AIRC

Alma Mater Studiorum – Università di Bologna (UNIBO)

Founded in 1088, UNIBO is recognized as the oldest university of the Western world. Nowadays, UNIBO is the second largest university in Italy and one of the most important institutions of higher education across Europe. UNIBO in numbers: 5 operating sites and a permanent headquarter in Buenos Aires, 637 M€ turnover, 32 Departments, 5 Schools, 87.758 students (among which, 6.484 International students), 5.733 permanent staff, 2nd Italian University in QS World University Ranking 2019 for Life Science & Medicine, 30 research outputs per day and 11.000 research outputs per year. Research and Innovation are a priority of UNIBO. Regarding its fundraising ability, UNIBO is very active at both national and the European level in all the research areas. Among its assets, UNIBO encompasses Bologna University Hospital Authority St. Orsola-Malpighi, which is home to the School of Medicine and Surgery. The University Hospital is an internationally acclaimed institution for the study and treatment of diseases, and each year organizes medical conferences and conventions attended by professionals of international fame. In Horizon 2020, UNIBO is involved in 306 funded projects (81 as coordinator) with more than 128 M€ of funding. In the framework of the Societal Challenge 1 – Health, Demographic Change & Wellbeing and the Innovative Medicine Initiative and related funding frameworks, UNIBO is participating in 30 projects, including 5 under IMI-2 JTI and 2 projects selected for funding under the SC1-PHE-CORONAVIRUS-2020-2 call, with a total EU contribution of over 14 M€. Moreover, the University of Bologna has advanced skills in management of large amount of digital data. The interdisciplinary research focuses on healthy ageing, cognitive impairment and musculoskeletal conditions, among others. Research activities spans from the application of virtual/augmented reality (VR/AR) and digital diagnostics and care, to the use of health informatics and mobile technologies.

Health Research

The main research activities developed in UNIBO are referred to twelve main fields:

  1. Ambient Assisted living
  2. Big Data and Omics medicine
  3. Brain Ageing And neurodegeneration
  4. Cancer
  5. Digital Medicine and e-health
  6. Epidemiology, biobanking and Cohorts
  7. Multimorbidity and age-related Diseases
  8. Pharmaceutical biotech
  9. Rare Diseases and Undiagnosed disorder
  10. Regenerative medicine and tissue Engineering
  11. Skeletal Health and Diseases
  12. Systems and Personalised medicine

With four specific paediatrics research domains:

  • Neonatology
  • Emergency pediatrics
  • Pediatric oncology
  • Pediatric neurology

Azienda Ospedaliera Universitaria Consorziale Policlinico di Bari (AOPB)

At AOPB, experts, physicians and researchers study especially oncology, endocrinology, hepatology, nutrition, pneumology, respiratory diseases, neurology, rheumatology, cardiology and vascular diseases. Solid organ transplants are actively carried on. AOPB represents a regional reference centre for molecular diagnostics of infectious diseases. At the AOPB Giovanni XXIII Children Hospital, almost every specialty is represented. Patient care and research are specially focused on infectious diseases, nephrology, rheumatology, surgery, cardiology, intensive care, oncology, orthopaedics, hematology, endocrinology, gastroenterology, pulmonology, metabolic disorders and neonatal screening.

Azienda Ospedaliero Universitaria Meyer (AOU Meyer)

Meyer Children’s Hospital is a 250-bed public hospital of Tuscany’s regional health service and is integrated with the University of Florence. The hospital’s healthcare, research and training activities cover all pediatric medical and surgical areas and position it among Italy’s highly specialized hospitals for diagnosis, care and rehabilitation services for children, also as a national reference centre for complex cases, rare diseases, and surgery. Meyer’s researchers leverage state-of-the-art methods and technology to understand, prevent and halt the progression of childhood diseases, develop new and improved diagnostic tools, pave the way for innovative treatments and therapies, carry out high-level clinical studies on medicines and therapies, and evaluate how diseases progress and the impact of treatment. The hospital fosters independent research by guaranteeing services to support the development and execution of research and innovation projects and both non-profit and sponsored clinical trials. Meyer is located in the Florentine foothills in an area characterized by natural beauty; the hospital is currently undergoing a phase of rapid expansion with several construction projects underway that will further strengthen its capacity to provide excellent patient-centered care, undertake innovative research and train the pediatric healthcare workers of tomorrow.

Consorzio per Valutazioni Biologiche e Farmacologiche (CVBF)

It is a non-profit organisation whose mission is to perform research and education in the pharmaceutical field integrating regulatory, clinical, epidemiological, economical and statistical expertise. It is a consortium between Università degli Studi di Bari ‘Aldo Moro’ (UniBA), Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus (FGB), TEDDY – European Network of Excellence for Paediatric Reserach (TEDDY) and Mediterranea – Associazione per lo sviluppo locale (MEDITERRANEA). The main fields of interest are life sciences and biotechnologies, drug development for small populations (paediatric and rare diseases), research management and methodology, monitoring, statistics, regulatory, ethics and pharmacovigilance. CVBF can count on the expertise and collaboration of researchers, scientists, health experts and research centers working together to identify the most appropriate research tools and procedures that reflect the specificity of the paediatric patient population. CVBF has a significant expertise in the project coordination, conducting research activities mainly in the context of national and EU funded projects and being Coordinator of the first paediatric network of excellence under the FP6 (TEDDY), 2 FP7 projects (DEEP, GAPP) and Partner in many projects funded by the European Commission (DG-Research and DG-SANCO).

Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus (FGB)

It is a registered not-for-profit scientific research organisation promoting research in biological, medical and pharmaceutical fields, with particular reference to rare and paediatric diseases and patients with unmet medical needs. FGB participates in many EU-funded projects, adding its specific capacities in terms of providing support to the regulatory, ethical and methodological activities. The Foundation also works on the Health Technology Assessment (HTA), to evaluate both real and potential effects of technology, as well as the consequences that the introduction or the exclusion of an intervention (for example a medicine or a device), has for the health system, the economy and society. The activity includes the conduct of studies and analysis aimed at providing summaries and evaluations of the available evidence, including the Patient Reported Outcomes (PROs) and Quality of Life (QoL) assessment.

Fondazione PENTA Onlus (PENTA)

Penta (Fondazione Penta – for the treatment and cure of HIV (and related diseases) Onlus, www.penta-id.org) was established in 1991 as an independent collaboration among paediatric HIV centres across Europe aiming to address questions about antiretroviral therapy (ART) in HIV infected children. The Penta Foundation was subsequently set up in 2004 as the legal body representing the Penta network. In 2011 Penta evolved to Penta-ID (Infectious Diseases, integrating the expertise acquired in more than 20 years of successful activity in the area of HIV to other paediatric infectious diseases and investigate and implement the best ways to prevent, diagnose and treat diseases in children. To date, Penta sponsored 20 trials in paediatric HIV. The Penta network benefits from international recognition, wide geographical representativeness with over 130 centers in 42 countries, very high-quality research, an outstanding track record and diversified public and private funding. Penta-ID has been recognized as a Level-1 Network for paediatric infectious disease in Europe by EnprEMA. Penta is also member of a WHO Network (Global Accelerator for Paediatric Formulations (GAP-f)) aimed at enhancing the coordination and accelerating the prioritization, investigation, development, introduction, and safe rollout of high-quality medicines in optimal formulations for children in need. Current activities beyond clinical trials and epidemiologic studies, include training/educational programmes, capacity building activities, and development of HIV treatment guidelines.

Fondazione Telethon (Telethon)

Fondazione Telethon (FT) is one of the major Italian biomedical non-profit organization founded in 1990 at the behest of patient groups to advance biomedical research towards the cure of rare genetic conditions. In its 30 years of activity, FT has invested more than €556 million euro in funding for more than 2,700 research grants and involving over 1,630 scientists for the advancement of knowledge regarding rare genetic diseases and development of treatments. FT is also comprised of two global centres of excellence in the study of rare genetic conditions: the Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli (Naples) and the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan.

IRCCS “Eugenio Medea”, Sezione Scientifica dell’Associazione La Nostra Famiglia (IRCCS E. Medea)

It is dedicated to research, treatment and training in the field of neurological and neuropsychic pathologies. The researchers work on neonatology, neonatal and paediatric intensive care, psychiatry and psychology, otolaryngology, neurology, ophthalmology, musculoskeletal diseases, pneumology and respiratory diseases. The Neurobiology Laboratory studies the paediatric development mechanism in neurology (e.g., movement disorders, infant brain atlas) and in rehabilitation. They also develop new model platforms using fly models. They perform developmental molecular and experimental pharmacology using in-vivo and ex-vivo model to test drugs. Moreover, the researchers use drosophila model to study motor neuron diseases, in particular hereditary spastic paraplegia genes. They use also the imaging technology to study brain and muscle. Furthermore, they work to identify the defect in autophagy process in hereditary spastic paraparesis type 15. At the Bioengineering Laboratory, the researchers study new conventional and small active pharmaceutical ingredients, and develop oral, buccal, sublingual, solid monolithic, solid powder, solid multiparticulates, liquid, and semisolid solutions. They perform also study in medical devices field, prototyping and validating devices and software dedicated to improving quality of life, rehabilitate and promote social inclusion of patients with chronic diseases.

IRCCS Burlo Garofolo (IRCCS B. Garofolo)

The research activity is articulated in five main areas that include chronic diseases with onset in paediatric age, materno-foetal medicine and neonatology, epidemiology, prevention and quality of care, pediatric surgery and rehabilitation, and pediatric neurosciences. IRCCS Burlo Garofolo plays a leading role in the research on molecular bases and identification of diagnostic biomarkers of coeliac disease and primary immunodeficiencies.  Research is also devoted to chronic inflammatory bowel diseases and pediatric rheumatic diseases where it focuses on the identification of novel diagnostic approaches and treatment personalization. IRCCS Burlo Garofolo acts as WHO Collaborating Centre for maternal and child health and is part of the Italian Network for Pediatric Clinical Trials (INCIPIT). The Institute is also a member of the Consortium for Biomedicine of AREA Science Park of Trieste, which gathers major international and national biotechnology research centers and offers sophisticated facilities for Biomedical Research, such as molecular imaging and production of nanovectors.

Istituto Ortopedico Rizzoli (I.O. Rizzoli)

At the Rizzoli, the current research is developed following four main lines of research: (I) oncology in terms of biological characterization of musculoskeletal tumours to identify prognostic factors, studies in pharmacogenomics and preclinical evaluation of new antitumoral drugs, validation of innovative surgical techniques; (II) regenerative and reparative medicine as design and execution of preclinical (in vitro/in vivo) and clinical studies for the treatment of acute, chronic and degenerative diseases of the locomotor system; (III) innovative and prosthetic surgery, design and execution of preclinical (in silico/in vitro/in vivo) and clinical studies on reconstructive surgical techniques; (IV) inflammatory, infectious, degenerative and genetic diseases in terms of defining the ezio-pathogenetic mechanisms of musculoskeletal diseases, identifying the local and systemic modifications caused in the body, and testing innovative therapies.

Italian Network for Paediatric Clinical Trials (INCiPiT)

It is a no profit consortium composed by the main Italian children’s hospitals, the largest departments of paediatrics as well as national and international paediatric therapeutic networks coordinated by Italian Institutions. It is coordinated by Ospedale Pediatrico Bambino Gesù and counts 23 Partners. Its primary mission is to foster high-quality research on drugs in children, but also improve opportunities for performing paediatric clinical trials, provide training and create competences, harmonize joint national operational models, create guidelines and templates to help serve research, involve children and young people and their families in paediatric research.

Ospedale Pediatrico Bambino Gesù (OPBG)

It is a scientific hospital which operates in three main sectors: research, assistance and treatment, and training. OPBG covers all the clinical aspects related to the paediatric medicine. Physician and researchers study genetic variation with in-silico and experimental approaches, use microarray to perform expression studies in Shwachman-Diamond syndrome, and discover frameshift mutations that cause congenital diseases. They also study dermatitis, juvenile idiopathic arthritis, cystic fibrosis and paediatric development mechanisms relevant in immunology (e.g., asthma), neurology (e.g., movement disorders, infant brain atlas), oncology (e.g., neuroblastoma, epigenetics, medulloblastoma, lung cancer, and colorectal cancer), infection (e.g., encephalopathy) and hormonal research (e.g., infancy growth, onset of puberty). Moreover, they develop new model platforms using placental and umbilical cord, and 3D organoid cell cultures from paediatric samples. They perform in vivo studies, stem cell biology and regenerative medicine with tissue engineering approaches. Moreover, physician and researchers perform research activities in identification, characterisation and validation of the biomarkers to diagnose, predict and prognostic genetic, immunological, onco-haematological and infectious diseases. Furthermore, they study biomarkers to be used as drug targets in paediatrics, development stage marker and safe marker in response to therapy. OPBG has a biobank with a sector dedicated to paediatric biosamples.

Ospedale Pediatrico Istituto Giannina Gaslini di Genova (IGG)

The Giannina Gaslini Institute for Scientific Hospitalization and Care (IRCCS) represents an excellence at national and international level for pediatric aspects and more generally for the maternal and child area. The Gaslini Institute pursues purposes of care and assistance to subjects in developmental age, combining it with the research activity of excellence in the biomedical field and with training activity, hosting the structures of the University of Genoa.The institute’s lines of research focus especially on the disciplines of Neuroscience, Rheumatology, Genetics, Nephrology, Onco-hematology, Immunology and Surgical and Rehabilitative Technologies. Network relationships are to be considered fundamental for the prospects of both research and highly specialized clinical activity, which allow the Institute to maintain a strong capacity for attraction of patients from other Italian regions and from numerous European and extra-European countries, as well as determining the conduct of a significant number of clinical trials. The Gaslini Institute is part of numerous national and international networks (e.g., European Reference networks, EATRIS) which group clinical and research centers. In 2019, four new patents were presented by the Institute. In 2019, the agreement between the Giannina Gaslini Institute and the Italian Institute of Technology (IIT) was brought to an operational conclusion, in particular as regards the aspects of the Joint Lab of Genomics, which presents both of high-quality research, and of highly specialized complex diagnostics. As part of this collaboration, the Gaslini Institute proposes itself as an accredited structure responsible for the diagnostic consequences that will derive from the large-scale study and with innovative methodologies of genetic pathologies in developmental age. The increased reliability and productivity of genomic technologies together with the reduction of costs and new knowledge on the genetic basis of human pathologies, suggest a transition of genomics from the research environment to clinical practice in the near future.  The Giannina Gaslini Institute has also a “Pediatric Clinical Trials Service” (acronym SSCP) to support ongoing clinical research activities in the Institute and to implement new projects.

Società Italiana di Farmacologia (SIF)

Founded in 1939, the Italian Society of Pharmacology (SIF) was recognized in 1996 as a non-profit scientific association by the Ministry of University and Scientific and Technological Research. SIF is a member of IUPHAR (International Union of Pharmacology) and EPHAR (Federation of European Pharmacological Societies). The current membership consists of approximately 1,200 Members. Recently within the Society, a Working Group on Pediatric Pharmacology (http://www.sifweb.org/la_societ%C3%A0#Gruppi_di_lavoro) has been established, joined by 44 pharmacologists. To respond to the increasing interest of individual researchers, scientific societies and pharmaceutical companies, the Pediatric Pharmacology Working Group aims to address the many specificities characterizing clinical pediatric research. Among these: (i) the need to develop protocols designed for specific age groups, as protocols used for the adult population may be inadequate for children, as well as those for older children may be inadequate for infants and newborns; (ii) the consolidation of competences for conducting early stage pediatric clinical trials (phase I / II, pharmacokinetic / pharmacodynamic studies) and the development of pharmacokinetic models suitable for children; (iii) the identification of biomarkers and new non-invasive parameters for drug efficacy assessment; (iv) the development of formulations suitable for children of various ages; (v) the application of innovative biostatistics methodologies; (vi) new preclinical protocols for the development of pediatric medicines and ATMP and (vii) the design of studies to evaluate long-term efficacy and safety. These activities are also implemented within SIF via the involvement of other existing SIF working groups, such as that SIF4RARE (Rare disease and Orphan Drugs) and Neuropsycopharmacology for specific projects on pediatric diseases.

TEDDY European Network of Excellence for Paediatric Research (TEDDY)

TEDDY European Network of Excellence for Paediatric Research is a scientific organization arisen from the Network of Excellence named “Task-force in Europe for Drug Development for the Young”, created in 2005 within the TEDDY project (LSHB-CT-2005-005216) funded under the Sixth Framework Programme of the European Commission with the aim to favour the integration of the paediatric research activities, a social awareness on the importance of the paediatric medicines across and the improvement of the relevant ethical, legal and regulatory frameworks. The main objective of the TEDDY Network is to promote children tailored medicine, guarantying children rights and well-being. It addresses methodological, ethical, legal and social issues of research (from the preclinical phase to clinical evaluations and medicines utilization, access policies and education) and implements good practices and tools to plan, design and perform clinical studies at national and international level. TEDDY is a category 1 network member of Enpr-EMA, the European Network of Paediatric Research at the European Medicines Agency and registered at ENCePP (the European Network of Centres for Pharmacoepidemiology and Pharmacovigilance). TEDDY can count on the multidisciplinary expertise and collaboration of researchers, scientists, health experts and paediatric clinical research centres working together to identify the most appropriate research tools and procedures that reflect the specificity of the paediatric patient population in compliance with children rights. It collaborates with existing paediatric networks, and research organizations with the goal to promote and foster scientific and technological excellence in an ethically sound paediatric research in Europe. Moreover, TEDDY has developed a European Paediatric Medicines Database (EPMD) including information on medicines approved for children by EMA (indication, dosages, by age populations, studies and trials). TEDDY has also developed a long-standing experience and expertise focused on innovative methodologies and ethical, legal, and societal issues relevant for paediatric research also developed within EU funded projects and in collaboration with European institutions such as the European Medicine Agency, the European Commission, and the Council of Europe.  TEDDY is particularly engaged in increasing awareness on the topics of paediatric research and encouraging the participation of children in research. TEDDY provides support, education and information to patients and families regarding their participation in clinical trials. To this aim, different tools and educational resources with different format (e.g., serious games, comics, videos on the development of clinical trials) have been developed. Regarding the patients’ empowerment and the involvement in the paediatric clinical research, TEDDY has promoted the creation of several Young Persons Advisory Group (YPAG) in Italy, Albania, Greece, Romania and Czech Republic. TEDDY is also strongly involved in the initiative of the Council of Europe on strengthening children’s participation in the decision-making process on matters regarding their health.Thanks to the international recognition and the wide geographical representativeness, TEDDY is able to provide the paediatric community with: advice on Paediatric Medicine Development Issues; advice on relevant Ethical, Legal and Societal Issues (ELSI) in a children/fundamental rights perspective (e.g. data protection, right to health protection…); advice on children empowerment and engagement in paediatric studies; easy dissemination of relevant information; documents and recommendations in the sector of paediatric study methodology and ELSI issues.

Università degli Studi di Cagliari (UniCa)

UniCa has a broad range of expertise and research, which extends from basic and applied research to patient-centered clinical research. Among the activities of interest for EPTRI, researchers at the Department of Biomedical Sciences, and at his Section of Neuroscience and Clinical Pharmacology (SNCP) in particular, are involved in basic and clinical research in neuroscience and in neuropsychopharmacology. They use in vivo and in vitro animal models and neurophysiological, neurochemical and behavioural techniques to study the neurobiology of brain systems involved in neurodevelopmental disorders, such as autism and schizophrenia, the effect of drugs of abuse and other environmental insults in vulnerable periods of development (prenatal life and adolescence). Researchers are actively involved in drug discovery in pharmacology by utilizing state-of-the-art equipment located in laboratories and in the Core Research Facility (CeSAR) at UniCa. Furthermore, within the SNCP, the Unit of Child and Adolescent Neuropsychiatry, with both in-patient and out-patient facilities, is actively involved in industry-sponsored and investigator-initiated clinical research in a wide range of developmental neuropsychiatric disorders, also supported by specific EU Health Grants (PERS, STOP, ADDUCE, MATRICS, Conect4Children). In collaboration with the Institute for Genetic and Biomedical Research (CNR-IRGB) and the Institute of Neuroscience (IN-CNR), researchers pursue several research lines focused on the genetics of Sardinian population, and on neurobiology of neuropsychiatric disorders. Additionally, other research activities within UniCa span from neuroscience, neurology, cardiology, vascular diseases, nutrition, infection diseases, oncology, immunology, genetics, psychology and psychiatry.

Università degli Studi di Milano (UniMi)

The Pharmaceutical Technology and Regulatory Affairs Unit and the Laboratory of Cellular and Molecular Biology Applied to Neurodevelopmental Diseases are active parts at the University of Milan that has a long-standing expertise in neurology, immunology, oncology, nutrition, cardiology, vascular diseases and infectious diseases. The Laboratory of Cellular and Molecular Biology Applied to Neurodevelopmental Diseases focuses its research activities on mechanisms leading to neurodevelopmental disorders and autism spectrum disorders. Basic, translational and pre-clinical studies related to Rett syndrome and CDKL5 deficiency disorders are currently active. Along the year, the Laboratory has developed several cellular (primary neurons and astrocytes, neurons derived from neuroprecursor stem cells) and animal models for the study of Rett syndrome and the CDKL5 deficiency disorder. Studies on stem cell biology including neural progenitor cell transplantation considered as a promising therapeutic strategy for the treatment of a long list of neurodegenerative disorders such as multiple sclerosis, ischemic stroke, spinal cord injury, Huntington’s and Parkinson diseases. Using animal models and animal embryonic stem cells, the Laboratory also performs studies aimed at identifying and testing novel drug targets for neonatal populations. Further, in order to detect novel therapeutic targets for pediatric neurological disorders, they are developing high throughput cell-based platforms for drug-screening based on transcriptional profiles; efficacy of selected candidates will be then tested in vivo at different developmental ages including perinatal animals. At the Pharmaceutical Technology and Regulatory Affairs Unit, the research concerns the design of topically applied dosage forms, such as semisolids and (trans) dermal patches. The researchers perform the evaluation of skin penetration and permeation of active ingredients by means of ex vivo methodologies in order to study passive strategies, such as chemical enhancers and supersaturation, for enhancing absorption. They are also focused on optimizing test procedures for the quality control of these formulations. The researchers also perform formulation study and development of microparticulate systems or orodispersible film, intended to be used for personalized medicines, and mucoadhesive dosage forms for the treatment of buccal pathologies. The ex vivo transmucosal permeation and the effects of the active ingredient on in vitro bioadhesive properties are also studied. Finally, the research also involves the pharmaceutical legislation and regulatory affairs connected to the production, distribution, and dispensation of medicinal products and other healthcare products.

Università degli Studi di Padova (UNIPD)

At UNIPD, several departments perform research on the human health to identify the mechanisms of diseases and medicines adapted to cure them. The research is mainly focused on the study of the mitochondrial dynamics, intracellular ion channels, circadian rhythms, sexual signals and the interaction between the body and the environment thanks to the collaboration of experts from different fields like genomics, bioinformatics, etc. The study of the signals is considered crucial to understand the healthy and non-healthy functioning of the living organisms, populations and communities. Moreover, some of the research lines are on neurofibromatosis for the identification and molecular characterisation of new mutations; cytogenetics to characterise the chromosomal rearrangements; molecular biology which validate splicing mutations using hybrid mini genes, characterise genetic anomalies, and study foetal DNA from maternal plasma for the diagnosis of genetic diseases; mitochondrial physiopathology which study the molecular basis and the therapies for the defects in the mitochondrial respiratory chain; the development of animal models like S. cerevisiae, C. elegans and zebrafish; and the clinical teratology regarding woman that entered in contact with teratogenic substances. Other interesting fields applied to paediatric research are epidemiology, clinical research, innovative therapies, applied biology, applied neuroinformatics and strategic cardiovascular engineer. At UNIPD are also available competences in pathogenesis of infective diseases, infections and immunity, cancer biology and the application of advanced therapies on human tumors, stem cell research, and regenerative medicine. There is also the identification of new molecular targets for tailored therapies aimed at identifying new drug/small molecule innovative therapies validated in vitro and in vivo.

Università degli Studi di Parma (UniPr)

The researchers work in the fields of cardiology and vascular diseases, endocrinology, hepatology, immunology, oncology, haematology, neurology, rheumatology, genetics, pneumology, respiratory diseases, infectious diseases and musculoskeletal disorders. At the Department of Biomedical-Biotechnology and Translational Science, the researchers are engaged on several projects, they study the effects of tetracalcium phosphate and biphasic tetracalcium phosphate powders on human osteoblasts, printed 3D bone in surgery for planning and training, Crohn diseases and its resistance effects on novel drugs, and diabetes mellitus. Moreover, they study the mutation of NOTCH1 gene in the T-cell of lymphoblastic leukaemia discovering its therapeutic effect. They successfully performed the treatment of granular cell tumour on the tongue with diode laser. At the Department of Clinical and Experimental Medicine, researchers study novel approaches to improve the killing of myeloma cell by monoclonal antibodies, perform animal studies on juvenile animal studies (e.g., rat) and in vitro studies with the aims to understand how aptamers recognize fibronectin and confer improved bioactivity to biomaterials promoting new bones formation. They are active in genetic field with several projects that concern genotyping, phenotyping, genetic variations, genetic mutations, and gene polymorphism. At the Department of Life Science, researchers perform identification and experimental validation of novel drugs using zebrafish model and yeast model, and study nanostructure for the detection of bacteria, the application of genetic studies to therapy for hereditary optic neuropathies, and spike protein of SARS-CoV-2 and its interaction on human cells.

Università di Bari Aldo Moro (UniBa)

It is a multidisciplinary university, which offers a wide range of academic programs in different disciplinary fields. At the Department of Pharmacy and Pharmaceutical Sciences, the researchers perform educational and research activities on drug design, parallel synthesis of focused molecular libraries, in vitro target validation, in silico predictive toxicology, pre-formulation and formulation studies in paediatric, and prospective repurposing development process. They develop palatable oral liquid formulations of insoluble drugs using complexing excipients such as cyclodextrins, which improve both aqueous solubility and stability of interacting drugs. The unit has all the facilities to produce microparticulate-based formulations by prilling and spry-drying technologies, useful to mask the unfavourable taste of active pharmaceutical principles, increasing the acceptability of the paediatric patients. Innovative tailored formulation based on nanotechnology and 3D printing are also explored in order to generate patient centric dosage forms. Moreover, this department offers a wide expertise and technical equipments for the production and optimisation of different pharmaceutical formulations, and a computational laboratory for molecular modelling of drug and excipients.

Università di Milano Bicocca (Bicocca)

It is a multidisciplinary university, which offers a wide range of academic programs in different disciplinary fields. The research areas include life science, physical sciences and engineering, social sciences and humanities. The researchers work in cardiology and vascular diseases, neurology, hepatology, haematology, pneumology, respiratory diseases, oncology, rheumatology, infectious diseases, immunology and genetics. The researchers study paediatric development mechanisms in oncology (e.g., neuroblastoma, epigenetics, glioma), but also new treatment based on immunotherapy (e.g., natural kill cell mediated) and chemotherapy. They perform in vitro and in vivo studies using animal models (e.g., rat), proteomics to study TRIP8b protein in brain. Moreover, they use genetics approaches to identify shared polygenic risks and causal associations in amyotrophic lateral sclerosis. They also investigate glioma microenvironment using molecular and imaging biomarkers to overcome treatment resistance. They study the effects of different type of molecules (e.g., crizotinib) in patients with anaplastic lymphoma kinase positive refractory to chemotherapy. They also perform stem cell and regenerative medicine with tissue engineering approaches. Recently, they study the infective mechanism, the effects in children, adult and older of COVID-19, and compare and analyse data using genetics approaches.

Università di Pavia (UniPavia)

The Pediatric Unit is an active part of the Department of Clinical, Surgical, Diagnostic and Pediatric Sciences of the University of Pavia. The research activities of the Pediatric Unit cover most of the areas of pediatric translational science. The research unit takes part in several projects of the “current research” programs of Fondazione IRCCS Policlinico San Matteo, some of which aimed to investigate new approaches for diagnosing pediatric food allergies and the immune system of the upper airways in children. Also, pediatric researchers are currently working on basic, translational, and clinical studies related to the pathophysiology and management of pediatric allergies (asthma, atopic dermatitis, IgE-mediated food allergy, allergic rhinitis). Notably, an active field of research is based on identifying clinical phenotypes and potential endotypes of severe asthma to develop an approach aimed at personalized medicine and biological therapies in pediatrics. The researchers are also working on the clinical and immunological assessment of emerging allergic disorders, such as eosinophilic gastrointestinal diseases, identifying novel molecular targets and potential non-invasive diagnostic tools. Recently, in collaboration with the National Institute of Health (NIH), pediatric researchers of the University of Pavia are performing studies to discover possible immunological mechanisms underlying the different clinical expression of COVID-19 diseases in children. Researchers: Prof. Gian Luigi Marseglia, e-mail: [email protected]; Prof. Amelia Licari: [email protected]

Università di Roma Tor Vergata (TorVergata)

At TorVergata University, the research is mainly oriented on cutting-edge themes in the study of life like molecular mechanisms of diseases like neurodegenerative diseases and regulation of processes of cancerogenesis. Specifically, a huge interest is dedicated to the study of planned cell death, autophagy and implication of mitochondria, and development and physiopathology of nervous system. The laboratories apply tecniques like bioinformatics from protein and DNA 3D structure prediction to shotgun metagenomics. The researchers also study animal models for infectious diseases and experimental oncology, development of vaccines and development of new materials to be used in prosthesis, interaction host-pathogen in tuberculosis, HIV, HBV and HCV, and identification of immunotherapeutic strategies for infections. Other lines of research are related to biochemistry (with study on antioxidant enzymes, redox signals, and dysregulation of adipose tissues), genetics (on regulation of mRNA coding for ribosomes), virology (new strategy for the control of viral replication, stress answers in the viral infection and cancer, cellular signalling in infections) and microbiology (which studies environmental contamination of antibiotics).