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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.

[/pm_ln_accordion_group_item][pm_ln_accordion_group_item el_title=”Istituto di Genetica Molecolare Luigi Luca Cavalli-Sforza (IGM)” el_button_color=”#829596″ el_content_bg_color=”#829596″]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.

[/pm_ln_accordion_group_item][pm_ln_accordion_group_item el_title=”Istituto di Nanotecnologia (NANOTEC)” el_button_color=”#829596″ el_content_bg_color=”#00a6b4″]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.[/pm_ln_accordion_group_item][/pm_ln_accordion_group][/vc_column][/vc_row]