Research SectionsDevelopmental Age SectionPediatric neurology, epileptology, and neurodevelopment

Pediatric neurology, epileptology, and neurodevelopment

Affiliated Staff

• Prof. Renzo Guerrini (Coordinator) — Full Professor, MEDS-20/B Child Neuropsychiatry — Research areas: Neurodevelopmental Disorders, Epilepsy, Neurogenetics, Neurophysiology, Neuroimaging, Neurobiology
• Prof. Carmen Barba — Associate Professor, MEDS-20/B Child Neuropsychiatry — Research areas: Epilepsy surgery, Epileptology, Pediatric Neurophysiology
• Prof. Simona Balestrini — Associate Professor, MEDS-20/B Child Neuropsychiatry — Research areas: Rare and complex epilepsies, Genomics, Neurophysiology, Transcranial Magnetic Stimulation
• Prof. Simona Fiori — Associate Professor, MEDS-20/B Child Neuropsychiatry — Research areas: Neonatal and pediatric neurology, Structural and functional neuroimaging, Fetal neurology
• Prof. Amelia Morrone — Associate Professor, MEDS-20/A General and Specialist Pediatrics — Research areas: Neurometabolic Diseases, Genetics
• Dr. Luca Bartolini — Fixed-term Researcher under Law 240/10, MEDS-20/B Child Neuropsychiatry — Research areas: Inflammation in status epilepticus, Rasmussen encephalitis

Research Activities of the Group

The Group coordinated by Prof. Renzo Guerrini, based at Meyer University Hospital IRCCS, conducts integrated research activities in the areas of neurodevelopmental disorders, brain malformations, epilepsy, and neurometabolic diseases. In the field of neurodevelopmental disorders, brain malformations, and epilepsies, research activities focus on the clinical, neurophysiological, and neuroradiological characterization of patients; the identification of the genetic causes of these conditions through advanced genomic investigations; the characterization of the morpho-functional effects of the identified genetic variants; and epilepsy surgery in patients with drug-resistant seizures. Clinical research activities also include projects aimed at characterizing the natural history of rare neurological diseases through the creation of disease registries, and at developing translational approaches oriented toward precision medicine, integrating genetic and functional characterization with the development of targeted therapeutic strategies. In the field of neurometabolic diseases, research is dedicated to advanced diagnostics, genetic confirmation of newborn screening results, cellular biochemical assays, functional studies to validate the pathogenicity of gene variants, and epigenetic studies (particularly on epi-cblC disease). Patient characterization makes use of techniques such as high-density EEG, analysis of high-frequency oscillations (HFO), transcranial magnetic stimulation combined with EEG (TMS-EEG), resting-state functional magnetic resonance imaging (resting-state fMRI), diffusion tensor imaging (DTI), diffusion kurtosis imaging (DKI), and ultra-high-field magnetic resonance imaging (7T-MRI). Genomic analyses are performed using Novaseq 6000DX, Nextseq 500DX, Bionano Saphyr (optical genome mapping), and Oxford Nanopore P2 (long reads). The morpho-functional characterization of the effects of genetic variants is carried out mainly through the reprogramming of patients’ somatic cells into human induced pluripotent stem cells (hiPSCs), followed by their differentiation into neural precursors and mature neurons, hepatocytes, and chondrocytes. The study of disease-specific cellular models is conducted through biochemical, molecular biology, transcriptomic, fluorescence confocal microscopy, and electron microscopy investigations. For neural derivatives, single-cell electrophysiology (patch clamp) and neural network electrophysiology (multi-electrode array – MEA) are also employed. These investigations are performed before and after treatment with specific molecules in order to identify new personalized therapies.

Laboratories

• Clinical neurophysiology and neuropsychology (at Meyer University Hospital IRCCS)
• Neurogenetics (at Meyer University Hospital IRCCS)
• Molecular genetics of neurometabolic diseases (at Meyer University Hospital IRCCS)
• Cell reprogramming and experimental neurophysiology (at Meyer University Hospital IRCCS)
• Neurobiology (at the Department of NEUROFARBA)

Main Funded Projects in the Last 10 Years

• An integrated approach to unravel the genetic causes and molecular pathogenesis of epileptogenic focal cortical dysplasia — Italian Ministry of Health and Tuscany Region, competitive call — P.I.: Prof. Renzo Guerrini — Group funding: €238,062.32 — 16/06/2016 – 15/06/2020
• Developmental and epileptic encephalopathies: epidemiology, comorbidities, molecular diagnosis, personalized management, and costs analysis (DECODE-EE) — Tuscany Region, competitive call — P.I.: Prof. Renzo Guerrini — Group funding: €250,000.00 — 09/07/2020 – 08/01/2025
• Human Brain Optical Mapping: an Interplay between functional and structural connectomics in healthy and diseased brain — Private funds – Ente Cassa di Risparmio di Firenze, competitive call — P.I.: Prof. Renzo Guerrini — Group funding: €428,500.00 — 01/01/2021 – 31/12/2025
• A Multiscale integrated approach to the study of the Nervous system in health and disease (MNESYS) — National Recovery and Resilience Plan (PNRR), NextGenerationEU, competitive call — P.I.: Prof. Renzo Guerrini — Group funding: €521,000.00 — 01/11/2022 – 31/10/2025
• Precision medicine in Dravet syndrome: from a national registry to neuronal modelling based on individual genome data — Italian Ministry of Health, competitive call — P.I.: Prof. Renzo Guerrini — Group funding: €475,433.10 — 08/05/2023 – 07/05/2026
• AURORA: Advanced space-time-resolved techniques for functional neuroimaging characterization of structurally abnormal eloquent cortical Areas — Fondazione Pisa per la Ricerca, competitive call — P.I.: Prof. Renzo Guerrini — Group funding: €800,000.00 — 20/05/2024 – 19/05/2027
• Personalized therapeutic approach to Dravet syndrome guided by genetic-molecular, electrophysiological correlations in cellular models, and longitudinal clinical data — Fondazione CDP, competitive call — P.I.: Prof. Renzo Guerrini — Group funding: €100,000.00 — 01/10/2025 – 31/03/2027
• Setting up a laboratory for the development and characterisation of human induced pluripotent stem cells (hiPSCs) and their derivatives for the study of the pathophysiological mechanisms underlying rare genetic diseases and personalised therapeutic approaches — Private funds – Ente Cassa di Risparmio di Firenze, non-competitive call — P.I.: Prof. Renzo Guerrini — Group funding: €1,900,000.00
• Development and validation of prediction models for seizure and cognitive outcome after epilepsy surgery in children and adults — Italian Ministry of University and Research, competitive call — P.I.: Prof. Carmen Barba — Group funding: €144,980.00 — 18/10/2023 – 18/10/2025
• GENEPY – Optical Genome Mapping for the study of somatic mosaicism in children with drug-resistant epilepsy — University of Florence and Ente Cassa di Risparmio di Firenze, competitive call — P.I.: Prof. Carmen Barba — Group funding: €231,892.00
• Use of Transcranial Magnetic Stimulation (TMS) as a surrogate of Pathophysiology in genetic epilepsies – TMSpath — Tuscany Region, competitive call — P.I.: Prof. Simona Balestrini — Group funding: €197,868.00 — 12/04/2023 – 11/04/2027
• Tailored Approaches targeting Pathophysiology in GRIN-related neurodevelopmental disorders – TAP-GRIN — Italian Ministry of Health, competitive call — P.I.: Prof. Simona Balestrini — Group funding: €400,000.00 — 01/03/2025 – 29/02/2028
• Late-onset LSD in the differential diagnosis of neurodegenerative diseases (LysoLate) — Tuscany Region, competitive call — P.I.: Prof. Amelia Morrone — Group funding: €256,000.00 — 17/07/2020 – 16/01/2025
• Characterization of the pathophysiology of three LSDs (Pompe, Morquio, GM1 gangliosidosis) and identification of new therapeutic targets — Italian Ministry of University and Research, competitive call — P.I.: Prof. Amelia Morrone — Group funding: €102,905.00 — 17/10/2023 – 16/10/2025