Immunological and Neurodegenerative Diseases

Group Leader
Maria Liguori


Istituto di Tecnologie Biomediche
Via Amendola 122/D, 70125 Bari
tel. 080 592 9680

Membri del Laboratorio

  • Study of molecular profiles associated with neurological multifactorial diseases and their phenotypic aspects:

In neurodegenerative diseases such as Multiple Sclerosis, Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy: Characterization of the transcriptomic profile and identification of complex miRNA-transcription factor (FT) co-regulation networks. In vitro functional validation of the correlations between miRNA-target gene networks, miRNA-FT feedback and feed-forward circuits and the molecular pathways involved, through the application of the main genetic engineering and molecular biology methods.

  • Pharmacogenomics / pharmacoepigenomics as part of the innovative strategies of Personalized Medicine for the treatment of rare neurological diseases:

Characterization of molecular profiles by longitudinal prospective observation in order to identify suitable biomarkers for monitoring treatment, individual response and the occurrence of side effects in patients with Spinal Muscular Atrophy (SMA) and Multiple Sclerosis (MS).

  • Cell Vesicles (EV)s in neurodegenerative diseases:

Study of transcriptomic and proteomic profiles in EVs (exosomes and microvesicles) isolated from serum and cerebrospinal fluid of patients with MS, through the use of advanced omics technologies. Validation and functional analysis in vitro (reporter assays, gene knock-down, RNA interference) of significant cell-free RNA and vesicular proteins.

Principali progetti e collaborazioni

  1. Investigating the molecular signature of cognitive dysfunctions and disability progression in Pediatric and Adult Multiple Sclerosis by using an integrated Omic and bionformatic approach.

    Financed: FISM (grant expired, under evaluation for further coverage by other Agencies)
    Partner: San Camillo Forlanini Hospital, Rome

  2. Un approccio multidisciplinare per la ricerca di biomarcatori molecolari orientati alla valutazione del profilo rischio/beneficio nel trattamento dell’Atrofia Muscolare Spinale.
    Financed: Regione Puglia
    Partner: Department of Basic Sciences, Neurosciences and Sense Organs, University of Bari

Other Major Partners:

  • CNR Institute for the Chemical Physics Processes (IPCF), Bari Unit
  • Department of Chemistry, University of Bari
  • Department of Informatics, University of Bari
  • Istituto Nazionale Fisica Nucleare (INFN), Sezione Bari

Strumenti / Tecnologie

This is a research Institute equipped by a genomic laboratory with specialized instruments for molecular and cellular biology, and a bioinformatics laboratory in which the computational technologies required for the NGS data analysis are available. The genetic laboratory is fully equipped to perform the molecular analysis of the collected serum/CSF samples. The Unit just received financial support from Italian Ministry of Instruction, Research and University that will further potentiate the infrastructures, both fot HTNGS processing and bioinformatics analysis (PON Ricerca e Innovazione 2014-2019; Platform Title: National Research Center in Bioinformatics for Omics Sciences, CNRBiOmics). All the technologies will be set and fully functional within the current year so they will be available for the starting date of the project. For the Bioinformatics investigation, computational and information technologies for RNA-Seq data analysis are available, e.g bioinformatics infrastructure, servers and clusters dedicated to HPC and HTC computational jobs, database servers, and for Web and Web service deployment of in-house bioinformatics tools. Several public bioinformatics databases, software and services for genomics and transcriptomics studies are installed. Among the software, those requested for NGS platform: (e.g. SAMTools, Chipster, Bowtie). Overall, the infrastructure consists of a CPU 76core and 75Terabyte of storage. Furthermore, ITB is part of the Italian Institute for Nuclear Physics (INFN) production GRID2, and within the Virtual Organization ‘bio’ it also has available several thousand CPUs at its disposal.

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