Lessons learned and further road to the therapies of genetic neurological disorders. What we have, unmet needs and future perspectives
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Scientific conference november The event will take place in hybrid form 18th 2022 Lessons learned and further road to the therapies of genetic neurological disorders. What we have, unmet needs and future perspectives XXXII OTTORINO ROSSI AWARD IRCCS Mondino Foundation Pavia, via Mondino 2, Berlucchi Hall entrance from via Magenes www.mondino.it
Ottorino Rossi / Historical notes
Ottorino Rossi was born on 17th January, 1877, Ottorino Rossi made many important then new Scientific Director (prof. Giuseppe
in Solbiate Comasco, near Como, Italy. In scientific contributions to the fields Nappi), the IRCCS Mondino Foundation
1895 he enrolled at the medical faculty of the of neurology, neurophysiopathology has held an annual Ottorino Rossi Award
University of Pavia as a student of the Ghislieri and neuroanatomy. These include: the Conference at which the award is presented
College and during his undergraduate years identification of glucose as the reducing agent to a scientist who has made an important
was an intern pupil of the Institute of General of cerebrospinal fluid, the demonstration contribution to research in the field of the
Pathology and Histology, headed by Camillo that fibres from the spinal ganglia pass into neurosciences.
Golgi. In 1901 Rossi obtained his medical the dorsal branch of the spinal roots, and In the course of its 30-year history, the
doctor degree with the highest grades and the description of the cerebellar symptom Ottorino Rossi Award has, on two occasions,
which he termed “the primary asymmetries
a distinction. In October 1902 he went on to been theme based. In the period 2010-2012,
of positions”. Moreover, he conducted
the Clinica Neuropatologica (Hospital for it was was devoted to The Founders of
important studies on the immunopathology
Nervous and Mental Diseases) directed by Neurology, namely the three founders of the
of the nervous system, the serodiagnosis
Casimiro Mondino to continue his studies. most important Italian Schools of Neurology
of neurosyphilis and the regeneration of
At the same time, he continued to frequent of the twentieth century, while the awards
the nervous system. He was the author of
the Golgi Institute which was the leading assigned from 2017 to 2019 celebrated the
major scientific works including an extensive
Italian centre for biological research. Having Pavia Legacy. This latter series stemmed
investigation of arteriosclerosis in the brain,
completed his clinical preparation in Florence L’Arteriosclerosi dei Centri Cerebrali e Spinali from the desire to recognise eminent
under Eugenio Tanzi, and in Munich at the (1906), which dealt with the development researchers with strong scientific and cultural
Institute directed by Emil Kraepelin, he taught of lesions of vascular origin. He died in 1936 links with the city of Pavia.
at the Universities of Siena, Sassari and, from at the age of 59, having named the Ghislieri Unfortunately, due to the restrictions
1925, Pavia. In Pavia he was made Rector of College as his heir. Ottorino Rossi was one of imposed by the Covid-19 pandemic, it was not
the University (serving from 1925 to 1936), Camillo Golgi’s most illustrious pupils as well possible to stage the Ottorino Rossi Award
and during his tenure he was instrumental in as one of the most eminent descendants of Conference in 2020, but the tradition was
getting the buildings of the new San Matteo Pavia’s medico-biological tradition. resumed the following year. This year, 2022,
General Hospital completed. Since 1990, thanks to an initiative of the brings the 32nd edition of the Award.
2
Previous Winners / Ottorino Rossi Award
1990 1998 2005 2013
Vittorio Erspamer Alain Berthoz Jes Olesen Henry Markram
Rome (Italy) Paris (France) Copenhagen (Denmark) Lausanne (Switzerland)
1991 2006 2014
1999
Paolo Pinelli Stanley Finger Emmanuele A. Jannini
Ottar Sjaastad L’Aquila (Italy)
Milan (Italy) S. Louis (USA)
Trondheim (Norway)
1992 2007 2015
Giovanni Di Chiro 2000 Michael A. Moskowitz Roberto Crea
Bethesda (USA) John Timothy Boston (USA) Hayward (USA)
Greenamyre 2016
1993 2008
Atlanta (USA) Richard Stanislaus
Clarence Joseph Gibbs Patricia Smith Churchland
Joseph Frackowiak
Bethesda (USA) 2001 San Diego (USA)
Lausanne (Switzerland)
1994 Salvatore Di Mauro 2009
New York (USA) 2017
David Zee Stephen P. Hunt Pierluigi Nicotera
Baltimore (USA) London (UK) Bonn (Germany)
2002
1995 Elio Raviola 2010 2018
Elio Lugaresi Boston (USA) Vincenzo Bonavita Gianvito Martino
Bologna (Italia) Naples (Italy) Milan (Italy)
2003
1996 2011 2019
Michael Welch
Michel Fardeau Cesare Fieschi Adriano Aguzzi
Paris (France) Chicago (USA) Rome (Italy) Zurich (Switzerland)
1997 2004 2012 2021
Salvador Moncada François Boller Giorgio Bernardi Rigmor Højland Jensen
London (UK) Paris (France) Rome (Italy) Copenhagen (Denmark)
3
Francesco Muntoni / Ottorino Rossi Award 2022
he is currently Head of the Dubowitz Hammersmith Hospital from 2008 to
Neuromuscular Centre at UCL Institute 2018, where he is still Theme Lead in Novel
of Child Health and Great Ormond Street Therapies at the Biomedical Research
Hospital for Children. Centre. He is also Co-Director of Medical
His London career began in 1993, and Research at the MRC Translational
over the first few years saw him working Research Centre at UCL.
initially as a lecturer, and then senior In the clinical and research sphere,
lecturer in paediatric neurology at the Professor Muntoni has always focused
Royal Postgraduate Medical School, mainly on novel gene identification, deep
Hammersmith Hospital, and then as phenotyping, and translational research,
a reader and honorary consultant in especially in the area of Duchenne muscular
paediatric neurology at Imperial College dystrophy (DMD), congenital muscular
London, Hammersmith Hospital. In 1996, dystrophy, and spinal muscular atrophy
he was made Clinical and Research (SMA), although his interest extends to all
Director at the Hammersmith Hospital developmental neuromuscular diseases.
Neuromuscular Centre, linked to the He had conducted and continues to
Francesco Muntoni was born in Cagliari
hospital’s Department of Paediatrics conduct numerous natural history studies,
in 1959. He studied in Italy, graduating in
and Neonatal Medicine, and in 1998, he has designed multiple clinical trials aimed
medicine at the University of Cagliari in
was appointed Professor of Paediatric at the development of therapies for
1984, and specialising in child neurology
Neurology at Imperial College London. neuromuscular diseases, and has thus
and psychiatry at the University of
In 2001, he became head of the national contributed significantly to the revolution
Sassari in 1989. He started his medical
referral centre for congenital muscular in the field of SMA therapy that has
career in the Department of Child
dystrophy at Hammersmith Hospital. taken place in recent years, transforming
Neuropsychiatry at the University
a very serious and fatal disease into a
Hospital of Cagliari.
He was head of the Developmental treatable condition. His collaborations
He has worked in the UK since 1993, where
Neuroscience Programme at with colleagues in the UK, Europe, USA
4and Australia have made it possible to Francesco Muntoni’s incessant research
identify over 30 genes responsible for activity has resulted in over 600 peer-
neuromuscular diseases. Overall, Professor reviewed publications and his work has a
Muntoni’s work has been shaped by his very high impact (he has an H-index of 127).
strong interest in clinical aspects, which Professor Muntoni is a member of
are both the starting point and the ultimate numerous scientific societies including the
target of his pathogenetic, molecular and European Paediatric Neurological Society
deep phenotyping studies, but he never (EPNS) and the World Muscle Society
lost sight of how the evolution of scientific (WMS), as well as many professional
knowledge can impact patients and their bodies, and since 1996 has held prestigious
expectations. institutional roles. Between 1994 and 2017,
Professor Muntoni is currently he was the recipient of nine scientific
participating in 17 funded studies (as PI awards.
in 12 of them and Co-PI in another two), Alongside his scientific work, which
mainly focusing on clinical aspects, the includes the supervision of high-calibre
study of biomarkers, and the development researchers engaged in scientific research
of therapies for DMD and SMA. They in the field of neuromuscular disease, he
include, in particular, the over six- also boasts great clinical expertise. The
million-pound BIND (Brain Involvement centre he directs sees more than 2,000
in Dystrophinopathies) project, and a children affected by neuromuscular
2.4-million-euro project focusing on diseases each year, and is therefore an
multisystemic aspects of SMA. essential point of reference for many
He also sits on the editorial boards of various clinicians wishing to specialise in this
journals devoted to neuropaediatrics and field, and for researchers interested in
neuromuscular disorders. investigating pathogenetic aspects of
neuromuscular disease.
5Background to the conference The starting point and inspiration into effective therapeutic strate- treatment of hereditary disorders. for the scientific programme is the gies, highlighting the existence of In the afternoon session, lectures lecture by Prof. Muntoni, who will conceptual and methodological dif- will cover four neurological disease explain how, in recent years, trans- ficulties that remain hard to over- types (frontotemporal dementia, lational research has managed to come. amyotrophic lateral sclerosis, met- find a cure for spinal muscular atro- The conference will highlight abolic diseases, and Parkinson’s phy, an extremely severe genetic recent advances, unmet needs, and disease), focusing on their genetic disease that was long consid- future perspectives in the quest for basis, pathogenetic mechanisms, ered incurable. This was achieved novel therapeutic strategies, look- and most importantly, on cur- through a combination of deep phe- ing at key examples in the fields of rent and novel therapeutic per- notyping, better understanding of paediatric and adult inherited neu- spectives, whose development, the disease pathogenesis, and the rological disorders. Prof. Muntoni’s although still conditioned by criti- development of innovative tech- lecture will be followed by two gen- calities and difficulties, is destined nologies aimed at correcting the eral lectures, the first dealing with to change the natural history of underlying gene defect. Research the difficulties in designing clinical these still incurable conditions. into other dramatic neuromuscu- trials in rare diseases (especially lar diseases, such as Duchenne those of childhood), and the second muscular dystrophy, on the other providing an overview of innovative hand, has not yet been translated technologies for the diagnosis and 6
Programme
8.45 Registration and welcome coffee CONFERENCE
9.30 Greetings from the Authorities session i
Chairpersons:
Renato Borgatti (Pavia)
XXXII OTTORINO ROSSI AWARD Stefania Corti (Milan)
9.40 Presentation of the Winner 11.20 Why is so difficult to design trials
Angela Berardinelli (Pavia) in childhood rare diseases?
Eugenio M. Mercuri (Rome)
Lecture by the Winner
Lesson learned from novel therapies for 12.00 New technologies in the diagnosis
childhood neuromuscolar disorders and treatment of inherited neurological
10.00 Francesco Muntoni (UCL, London) disorders
Enza Maria Valente (Pavia)
11.00 Award ceremony
Francesco Svelto (Pavia) 12.40 Discussion
Roberto Bergamaschi (Pavia)
13.00 Lunch
7Programme
session ii 16.00 Similarities and differences between
Chairpersons: genetic and pharmacological models
Stefano Cappa (Pavia) of Parkinson's disease: pathophysiological
Barbara Garavaglia (Milan) implications
Antonio Pisani (Pavia)
14.00 Genetic Frontotemporal Dementia:
from pathogenic mechanisms to disease 16.40 Discussion
modifying drugs
Daniela Galimberti (Milan) 17.00 Concluding Remarks
14.40 Strategies for gene therapy in Amyotrophic Scientific Supervisor
Lateral Sclerosis (ALS) Roberto Bergamaschi, Scientific Director
Vincenzo Silani (Milan) IRCCS Mondino Foundation (Pavia)
Scientific Committee
15.20 Gene therapy for inborn errors
Angela Berardinelli, Alfredo Costa, Luca Diamanti
of metabolism Claudio Pacchetti, Cristina Tassorelli (Pavia)
Nicola Brunetti-Pierri (Naples)
8Speakers and Chairpersons
Angela BERARDINELLI Stefania CORTI Francesco MUNTONI
Research Unit of Neuromuscular Neuroscience Unit, University of Milan Dubowitz Neuromuscular Centre,
Diseases of Childhood and Adolescence, and IRCCS Ca 'Granda Foundation, University College London (UCL, London)
IRCCS Mondino Foundation Polyclinic Hospital (Milan)
Antonio PISANI
Roberto BERGAMASCHI Daniela GALIMBERTI Research Centre of Movement Disorders,
Scientifc Director IRCCS Mondino Neurology-Neurodegenerative Diseases IRCCS Mondino Foundation (Pavia) and
Foundation (Pavia) Unit, University of Milan and IRCCS Ca University of Pavia
'Granda Foundation, Polyclinic Hospital
Renato BORGATTI (Milan) Vincenzo SILANI
IRCCS Mondino Foundation (Pavia) Departiment of Neurology
and University of Pavia; Barbara GARAVAGLIA and Neuroscience Laboratory,
Genetics of Movement Disorders IRCCS Auxologico Italian Institute (Milan)
Nicola BRUNETTI-PIERRI and Energy Metabolism Disorders, and University of Milan
Department of Translational Medical IRCCS Carlo Besta Neurological Institute
Sciences, University of Naples Federico II Foundation (Milan) Francesco SVELTO
President IRCCS Mondino Foundation
Stefano CAPPA Eugenio M. MERCURI (Pavia) and Rector of the University
IRCCS Mondino Foundation (Pavia) Department of Women's and Child Health of Pavia
and IUSS (Pavia) and Public Health Sciences, IRCCS
Gemelli University Hospital, Catholic Enza Maria VALENTE
University (Rome) Neurogenetic Research Center,
IRCCS Mondino Foundation (Pavia)
and University of Pavia
910
General information
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11Under the patronage of
SINPIA
Società Italiana di Neuropsichiatria
dell’Infanzia e dell’Adolescenza
SINS
ITALIAN SOCIETY FOR NEUROSCIENCE
With the unconditional support of
IRCCS Fondazione Mondino
Istituto Neurologico Nazionale
a Carattere Scientifico IRCCS
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