Staff:
Paola Mandich, Full Professor
Federico Zara, Full Professor
Emilia Bellone, Associate Professor
Aldamaria Puliti, Associate Professor
Renata Bocciardi, Tenured Researcher
Marcello Scala, Fixed-term Researcher
Paolo Scudieri, Fixed-term Researcher
Research topics:
Research in Medical Genetics is divided into two poles: one at the IRCCS Ospedale Policlinico San Martino, focused on adult neurodegenerative and neuromuscular diseases, and the other at the IRCCS Istituto Giannina Gaslini, specializing in pediatric care. While maintaining their own research autonomy, the two facilities work in synergy to achieve common strategic goals: identifying the causes of genetic diseases and proposing targeted and effective therapeutic approaches.
At IRCCS Policlinico San Martino, research is focused on neurodegenerative diseases (Parkinson's disease and Parkinsonisms; Alzheimer's disease and other dementias; motor neuron disease and other neuromuscular diseases of the adult; cerebrovascular diseases), which represent one of the major causes of morbidity and mortality in the elderly population.
Research activity is organized both with disease-specific projects and through broader projects aimed at studying the “omics” of neurodegeneration (exome, genome, transcriptome, etc.) integrated with clinical, imaging and biomarker characterization of patients enrolled in the studies.
The main project is the NeurOmics project (Omics Sciences for the Identification of Pathogenetic Mechanisms and Biomarkers in Neurodegenerative Diseases), the aim of which is to use the current knowledge and technological possibilities offered for the analysis of “omics” sciences, from the sequencing of the human genome to the study of the proteins encoded by it, in order to obtain a more complete characterization of patients based on the combination of omics/genomic and clinical data to radically improve the diagnosis, prognosis and therapy of neurodegenerative diseases. This project is conducted in collaboration with the Italian Institute of Technology (IIT) CMP3VdA center and IRCCS Ca' Granda in Milan, Italy. Other research projects are conducted both within the IRCCS Neuroscience and Rehabilitation Network Projects (RINs) of the Virtual Institutes of Pathology (IV Movement Disorders, IV Dementias, IV Rare Neurological Diseases, IV Neuroimmunological Disorders, IV Motor Neuron Diseases, IV Epilepsy) and in projects of the PNRR. In addition, clinical research includes participation in observational and interventional studies for innovative drugs for rare diseases.
At the IRCCS Istituto Giannina Gaslini, research is oriented toward the study of pediatric genetic diseases such as Cystic Fibrosis, Fibrodysplasia Ossificans Progressiva, Poland Syndrome, complex pictures such as syndromes associated with chromosomal rearrangements, Neurodevelopmental and Autism Spectrum Disorders, Epileptic Encephalopathies, and Epilepsy.
Primary goals are to identify molecular defects, pathogenetic mechanisms, and therapeutic targets for the development of targeted therapies.
These goals are pursued through advanced experimental approaches, such as genomic analysis, use of cellular models (primary cultures, iPSCs, neuronal models, respiratory models) and advanced technologies (genomic editing, patch-clamp and MEA electrophysiology, cellular imaging). The identification of therapeutic targets allows the development of targeted therapies using pharmacological agents that act on the underlying defect, innovative molecules such as noncoding RNAs (ASOs, siRNAs, microRNAs) or gene expression modulation approaches (CRISPRa and CRISPRi).
The research makes use of a large and continuously updated instrumentation pool. Research projects are conducted within national and international projects (PNRR, PRIN, Telethon, Vertex-CFRIA) and involve collaboration with numerous research institutions, including the Italian Institute of Technology.The School of Specialization in Medical Genetics belongs to the sector.