Renzo Guerrini
Renzo Guerrini (born November 25, 1956, Terni - Italy) is a Professor of Child Neurology and Psychiatry at the University of Florence.
Education and career
Education
- 1982: MD, Medical School/ University of Perugia, Italy;
- 1986: Specialist in Neurology, Medical School, Department of Neurology, University of Perugia, Italy;
- 1988: Special Studies in Clinical Neurophysiology, Department of Neurophysiology, University of Aix-Marseille, France;
- 1991: Specialist in Child Neurology and Psychiatry, Dep. of Developmental Neuroscience, Univ. of Pisa, Italy.
Previous positions
- 2003- 2005: Professor of Child Neurology and Psychiatry, Clinical and Research Unit Director, Medical School and Research Hospital IRCCS Stella Maris Foundation-University of Pisa, Italy[1].
- 2001-2003: Professor of Pediatric Neurology, Consultant Pediatric Neurologist, Institute of Child Health, Neuroscience Department, University College London and Great Ormond Street Hospital for Children [2].
- 1999-2001: Professor of Clinical Neurosciences (Epilepsy), Director the Centre for Epilepsy, GKT Medical School and Kings College Hospital, University of London, UK [3].
Current positions
- Professor of Child Neurology and Psychiatry, University of Florence, Director – Paediatric Neurology Unit and Laboratories and Neuroscience Excellence Centre, University Hospital IRCCS Meyer, Florence [4].
- Director: Postgraduate training in Child Neurology and Psychiatry, University of Florence[5].
- President of the Scientific Committee – The IMAGO 7 Foundation, Pisa. [6].
Research Interests
Renzo Guerrini’s research focuses on the neurogenetics, neurophysiology, neuroimaging, and innovative treatments of paediatric epilepsies, developmental brain abnormalities, movement disorders and intellectual disability.
Research
Renzo Guerrini has participated to, or coordinated, task forces, committees and commissions of international bodies and has been the principal investigator of numerous research projects, including DESIRE (Development and Epilepsy - Strategies for Innovative Research to improve diagnosis, prevention, and treatment in children with difficult to treat Epilepsy), a major EU Research project of the 7th framework programme[7]. He has served in the Editorial Board of Neurology, Epilepsia, Neuropediatrics, Journal of Child Neurology, Epileptic Disorders, Seizure, Oxford Open Neuroscience, Brain and Development.
Studies on epileptogenic genetic disorders and developmental brain abnormalities
The long-term goal of Renzo Guerrini’s research activities has been directed towards improved understanding and knowledge of the clinical, genetic and biological basis of childhood epilepsies and abnormal brain development and the development of novel treatment strategies for these disorders[8][9][10]. Most of the common forms of epilepsy and brain malformations in children are genetic and demonstrate significant clinical and genetic heterogeneity[10][11][5] [6]. His initial studies identified many different nosological entities and provided key insights into their pathophysiology, in particular the syndrome of idiopathic photosensitive occipital lobe epilepsy [7] [8], the syndrome of Rolandic epilepsy with epileptic negative myoclonus [9] and of polymicrogyria with electrical status epilepticus during sleep [10] [11]. The advent of progressively higher resolution magnetic resonance imaging prompted an etiological diagnosis in many previously undiagnosed children with epilepsy and it became clear that malformations of cortical development were a major cause, which attracted his research interest. His insights in this area contributed to the delineation of several new brain malformation syndromes including perisylvian [12], parieto-occipital [13] and frontal polymicrogyria [14], describing their diversity and causes [2]. He formed a Neurogenetics team that has provided considerable contributions to the study of the genetic bases of rare and complex developmental and epileptic encephalopathies whose nosology was becoming increasing articulated at the beginning of the third millennium[8].
His recent research activities benefited from his role as Principal Investigator of the large DESIRE Project, investigating the nature and causes of many neurodevelopmental disorders associated with epilepsy. Based on this project, other international collaborations and his clinical and research activities, Renzo Guerrini has authored papers on numerous new epilepsy genes as well as published detailed genotype-phenotypes studies for at least 40 disease-causing genes genes, the most frequent being SCN1A [15], the cause of Dravet syndrome and other genetic epilepsy syndromes, and FLNA [16] [17], the most common genetic cause of periventricular nodular heterotopia. Other disease-causing genes from his studies (https://www.omim.org/search?index=entry&start=1&limit=10&sort=score+desc%2C+prefix_sort+desc&search=Guerrini+), include, among others, ARFGEF2 [18] , ARX [19], ATP1A2 [20], ATP1A3 [20], ATP6V1A [21] [22], CDKL5 [23] [24] [25], CHRNA2 (26, 27) [26] [27], DNM1[28], DMXL2 [29], ERMARD [30], EXOC2 [31], GNAO1[32], KCNA1 [33], MAP1B [34], MTOR [35], PCDH19 [36] [37] [38], PIGP [39], PIK3R2 [40], RELN [41], SCN3A [42], SCN8A [43], SLC2A1 [44], SLC35A2 [45], SLC35A3 [46], SPTAN1 [47], SYNGAP1 [48], and TBC1D24 [49] [50].
Studies on treatment of paediatric epilepsy
His second area of interest has focused on treatment of epilepsy in children, an area he gave high priority with detailed planning of complementary clinical and research activities. He set up dedicated teams with expertise in both medical and surgical treatment. His work on epilepsy treatment has resulted in his participation in the controlled trials that provided the basis for use of stiripentol [51] [52] [53], zonisamide [54] [55] and fenfluramine [56] [57] [58] [59] in the treatment of children with severe epilepsies. In Florence, he serves as Chair of Pediatric Neurology where he developed a clinical trial Centre for phase 1 studies and an Epilepsy surgery program that takes advantage of advanced neuroimaging studies performed at an ultra-high field magnetic resonance imaging center he helped establish in Tuscany (https://www.fsm.unipi.it/ricerca-e-innovazione/fondazione-imago7/) [60] [61] [62] [63] [64]. The Pediatric Neuroscience Department he established at Children’s Hospital Meyer is one of the largest and most productive centers for treatment of difficult childhood epilepsy in Italy and Europe, helping many hundreds of children over the years. And this will likely be his greatest legacy.
External links
References
- ↑ IRCCS FONDAZIONE STELLA MARIS
- ↑ Great Ormond Street Institute of Child Health
- ↑ King's College Hospital - NHS Foundation Trust
- ↑ Renzo Guerrini - Meyer - Azienda Opedaliero Universitaia
- ↑ Renzo Guerrini - Professore Ordinario - Università degli Studi di Firenze
- ↑ Fondazione Imago7
- ↑ DESIRE Development and Epilepsy
- ↑ 8.0 8.1 Guerrini R. Epilepsy in children. Lancet. 367:499-524. 2006.
- ↑ Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 13:710-26. 2014.
- ↑ 10.0 10.1 Guerrini R, Conti V, Mantegazza M, Balestrini S, Galanopoulou AS, Benfenati F. Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. Physiol Rev. 103:433-513. 2023.
- ↑ Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 2015 May 1;5:a022392.
