Genomic Medicine (MEDS-01/A)

The Section of Genomic Medicine carries out its university mission in research, teaching and assistance through the use of the most modern techniques of analysis of modern genetics. The remarkable development of molecular DNA analysis techniques in the last 20 years has introduced new changes every year in each of these three areas. The genomic revolution started in the last 20 years, after the sequencing of the first genome, has led to the improvement of genetic counseling through new diagnostic pathways and the possibility of using whole exome sequencing in cases without a diagnosis.
The methodologies of genomic analysis find, in the Section of Genomic Medicine, wide application in the field of research applied both to classical genetic diseases (Mendelian), and to complex ones in which the role of DNA acts as a susceptibility factor. 
The interest in classical genetic diseases concerns the search for new causal genes in patients with intellectual disability, alternating hemiplegia and arrhythmogenic and non-arrhythmogenic cardiomyopathies. The in-depth study at the molecular level of the disease mechanisms in Fragile X syndrome aims to identify new forms of therapy, while for Spinal Muscular Atrophy a pilot project is underway in the Lazio and Tuscany regions, of which the Section is the leader, aimed at identifying at birth all newborns affected by this condition in order to initiate them within a few days to a new and effective gene therapy. 
Our research interest is also aimed at identifying genetic mechanisms in various complex diseases. This goal is achieved through the use of the exome in neurological conditions such as Amyotrophic Lateral Sclerosis (ALS) and neural tube closure defects, or in conditions of dysregulation of the immune system such as nephropathies and autoinflammatory diseases. A separate chapter concerns the genetics of tumors in which research concerns both the identification of new genes and variants in hereditary forms and in sporadic forms in which the challenge is to evaluate the clinical impact of these new variants.
Pharmacological screening and new biomarkers are also underway for alternating hemiplegia, Fragile X and ALS, using both modified neuronal stem cell lines and induced stem cells as study models.
All these goals are possible both through close collaboration with other researchers in the Department and Faculty of Medicine and Surgery and through national and international collaborations.
The ultimate goal of these research efforts is to translate it into a useful result for the patient in diagnostic, preventive and therapeutic terms in the logic of personalized medicine and prevention, i.e. by providing each patient/individual with a "personal" answer to his or her problem.