Research areas and methodologies:

The research activities are all aimed at defining the genetic profile and the molecular and cellular pathogenesis of diseases, in order to arrive at an individual diagnosis, prognosis and prevention, as well as personalized therapy. The definition of molecular pathogenesis represents the essential starting point for the development of in vitro models of a disease on which to test gene or RNA therapy products.
The central objective is the definition of the biological bases of human disability: physical, mental and social. It focuses on the following development points:

  • Definition of the genetic basis of adult and pediatric neuropsychiatric pathologies
  • Definition of the genetic components of complex (multifactorial), infectious, neurological, rheumatic, osteoarticular, oncological diseases
  • Definition of the genetic basis of rare pathologies (syndromology) with intellectual disability

The activity of the Genetics Unit is not limited to the definition of the genetic and epigenetic profiles responsible for disease, but also includes the functional analysis of the identified genetic variants, the disease modeling and the search for precision therapies to be tested on disease models. Genome edit procedures are includeding, replacement or antisense RNAs, high-throughput and medium-throughput compound screensing. A further objective is the definition of genetic profiles of susceptibility to diseases or even protection and the development of predictive models with the application of artificial intelligence through collaboration with other disciplines such as bioingengineering and bioinformatics.

The research is conducted with the integration of advanced methodologies, at the level of genomic DNA (new generation sequencing of gene panels or of the entire exome), of RNA (transcriptome analysis), at the protein level, and includes epigenetic studies (methylome ) and creation of functional in vitro models.

Collaborations with other Research Centers

  • Catholic University of the Heart of Rome (Medical Genetics)
  • Seaver Center for Autism for research and treatment – ​​Mount Sinai
  • Duke University (Child Neurology Unit)
  • Institute for Biomedical Research and Innovation (IRIB) National Research Council (CNR)
  • Mater Domini Catanzaro university hospital
  • University of CAGLIARI
  • Medical Genetics University of Pisa Faculty of Medicine
  • Department of Genetics in the School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA


1” – Medical Genetics – the analysis of biological samples (blood or saliva or biopsy samples) is carried out from which nucleic acids or proteins are extracted. Real-time analyzes are carried out with semi-quantitative PCR, methylation analysis, both Sanger and NGS sequence analyses. Bioinformatics analysis of genetic variants and functional analysis through the study of mRNA are also carried out. For real-time analysis the device is available in the facility of the PRABB building.

Thermocyclers for PCR, thermostats, chemical hood and refrigerators are available in the laboratory. For sequence analysis, NGS panel and Sanger sequencing analyzes are performed at the sequencing facilitying of the Polyclinic while for the analysis of exomes we rely on an external center.