9th Italian National Meeting on Mitochondrial Diseases - Mitocon
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9th Italian National Meeting on
Mitochondrial Diseases
Patients, families, physicians and researchers
connected. The new frontiers of research in
mitochondrial diseases
ROME, 30 MAY - 2 JUNE 2019
HOLIDAY INN ROME EUR PARCO DEI MEDICI
Organised by Mitocon - Insieme per lo studio e la cura delle
malattie mitocondriali Onlus
WITH THE SUPPORT OF:
AND WITH THE SUPPORT OF ISTITUTO SUPERIORE DI SANITÀ (NATIONAL HEALTH INSTITUTE)
SCIENTIFIC PROGRAMME
THURSDAY 30 MAY
Plenary room 10:00 - 12:30
Meeting of the Italian Patients'
Clinical Registry's Steering
Commitee and election of the
Control Committee (reserved)
13:00
Lunch
13:30
CME Scientific
Registration
Sessions
Plenary room 14:30
Simultaneous translation Welcome and patients' speech:
will be provided during M. G. Camera
the scientific sessions
15:00
Session 1:
Natural history of m.3243A>G, G. Gorman,
Natural history of the Wellcome Trust Centre for Mitochondrial
most common Research, Newcastle University
15:30
mitochondrial
Mitochondrial neurogastrointestinal
diseases encephalopathy (MNGIE), M. Filosto,
ASST Spedali Civili e Università degli
Chairman: Studi di Brescia
Paola Desideri, Vicepresident
16:00
Mitocon Onlus
Changing the natural history: the
example of the nucleotides/nucleosides
Moderator: therapy in TK2, M. A. Donati, AOU Anna
Olimpia Musumeci, Meyer, Florence
AOU Policlinico
"G. Martino", Messina 16:30
Primary mitochondrial myopathies: from
diagnosis to therapy, C. Lamperti,
Fondazione IRCCS Istituto Neurologico
Carlo Besta, Milan
17:00
Coffee Break
9th National Meeting on Mitochondrial Diseases
Holiday Inn Rome Eur Parco dei Medici17:40
Session 2:
The diagnosis of mitochondrial disorders
Diagnostic approaches by an integrative "multi-omic" approach,
H. Prokisch, German Research Center for
Chairman: Environmental Health, München
Piero Santantonio,
18:10
President Mitocon Onlus
The impact of muscle biopsy in the era
of massive genomic sequencing,
Moderator: S. Servidei, Istituto di Neurologia,
Michelangelo Mancuso, Università Cattolica del Sacro Cuore,
AOU Pisana - Rome
Università di Pisa 18:40
Neuroradiological red flags of
mitochondrial disorders, R. Lodi,
Università di Bologna
19:10
Closing
20:00
Dinner
9th National Meeting on Mitochondrial Diseases
Holiday Inn Rome Eur Parco dei MediciSCIENTIFIC PROGRAMME
FRIDAY 31 MAY
8:00
CME Scientific
Registration
Sessions
Plenary room 8:30
Simultaneous translation Welcome and patients' speech:
will be provided during M. Marmotta
the scientific sessions
9:00
Session 3:
Updates on potential dangerous drugs
News and updates on for mitochondrial patients, M. Mancuso,
AOU Pisana - Università di Pisa
mitochondrial
diseases 9:10
Mitochondrial diseases in the ERN-NMD,
Chairman: R. Horvath, Department of Clinical
Neurosciences, University of Cambridge
Paola Desideri, Vicepresident
Mitocon Onlus 9:40
The role of patients in the ERNs,
Moderator: P. Morandi, ePAG ERN Eye
Serenella Servidei,
Istituto di Neurologia, 10:10
Università del Sacro Cuore, Overview on new mitochondrial
syndromes in adults, V. Carelli, IRCCS
Rome
Istituto delle Scienze Neurologiche
(ISNB) Ospedale Bellaria, Bologna
10:40
Overview on new mitochondrial
syndromes in children, E. S. Bertini,
Ospedale Pediatrico Bambino Gesù,
Rome
11:10
Coffee Break
11:40
Guidelines in mitochondrial
diseases, R. Horvath, Department
of Clinical Neurosciences,
9th National Meeting on Mitochondrial Diseases University of Cambridge
Holiday Inn Rome Eur Parco dei Medici12:10
Session 4:
An innovative strategy based on Next
Posters and MitoIdeas Generation Sequencing for screening
Award mitochondrial DNA mutations as a valid
alternative to conventional methods, A.
Chairman: Legati, UO Medical Genetics and
Paola Desideri, Neurogenetics, Fondazione IRCCS Istituto
Neurologico Carlo Besta, Milan
Vicepresident
12:25
Mitocon Onlus
miR-181a/b downregulation improves the
neurological phenotype in mitochondrial
Moderator: disease models. B. Franco (poster
Costanza Lamperti, presented by
Fondazione IRCCS Istituto Dr. A. Indrieri), Telethon Institute of
Genetics and Medicine (TIGEM), Pozzuoli
Neurologico Carlo Besta,
Naples
Milan
12:40
In vitro models of Leber’s hereditary optic
neuropathy (LHON) and Pearson’s
syndrome to investigate pathogenic
mechanisms and test therapeutic
approaches, C. Peron, Unit of Medical
Genetics and Neurogenetics, Fondazione
IRCCS Istituto Neurologico “Carlo Besta”,
Milan
12:55
Dominant Optic Atrophy (DOA): not only
OPA1, G. Amore, Department of
Biomedical and Neuromotor Sciences,
University of Bologna, Bologna
13:10
Results of the 2018 MitoIdeas' winner
project: Characterisation of the metabolic
profile in mitochondrial diseases, G. A.
Primiano, Istituto di Neurologia, Università
Cattolica del Sacro Cuore, Rome
13:25
2019 MitoIdeas Award
Properzio Room 11:30 - 13:30
MNGIE Consensus Conference meeting
(reserved)
13:30
9th National Meeting on Mitochondrial Diseases Lunch
Holiday Inn Rome Eur Parco dei Medici14:30
Session 5:
Overview on ongoing clinical trials,
Ongoing clinical M. Mancuso, AOU Pisana - Università di
studies Pisa
Chairman: 15:00
Piero Santantonio, Update on BioElectron’s Mitochondrial
President Mitocon Onlus Drug Development Programs, M. Klein,
Chief Executive Officer of BioElectron
Moderator: 15:30
Valerio Carelli, Advances in the Elamipretide
Development Programs: Updating the
IRCCS Istituto delle Scienze
Mitochondrial Community, S. Bergheanu,
Neurologiche (ISBN), MD, PhD Senior Medical Director Stealth
Ospedale Bellaria, Bologna BioTherapeutics
16:00
Results of GS010 Gene Therapy
in LHON subjects, M. Taiel,
MD, VP of Clinical Development,
GenSight Biologics
16:30
Coffee break
17:10
Session 6:
Exploring new pathways to target
From basic science to mitochondrial diseases, C. Viscomi,
future therapies Medical Research Council Mitochondrial
Biology Unit, University of Cambridge
Chairman: 17:40
Piero Santantonio,
Towards therapeutic mitochondrial
President Mitocon Onlus genome editing using programmable
nucleases, M. Minczuk, MRC
Moderator: Mitochondrial Biology Unit, Wellcome
Trust, Cambridge Biomedical Campus
Valeria Sonia Tiranti,
Fondazione IRCCS Istituto 18:10
Neurologico Carlo Besta, Gene therapy for mitochondrial diseases:
promises and pitfalls, C. Viscomi,
Milan
Medical Research Council Mitochondrial
Biology Unit, University of Cambridge
18:40 - 19:10
MNGIE Consensus Conference,
R. Rinaldi, Neurology Unit,
9th National Meeting on Mitochondrial Diseases
AOSP, Bologna
Holiday Inn Rome Eur Parco dei MediciPATIENTS' PROGRAMME
FRIDAY 31 MAY
17:00 - 19:00
Activities for patients
Adults specialist medical consultation,
and families: M. Mancuso, AOU Pisana - Università di
Specialist medical Pisa
consultations *
Properzio Room
20:00
Dinner
* upon reservation
9th National Meeting on Mitochondrial Diseases
Holiday Inn Rome Eur Parco dei MediciPATIENTS' PROGRAMME
SATURDAY 1 JUNE
8:30
Activities for patients
Welcome
and families:
8:45
Plenary room
Genetic counselling in the
Moderators: asymptomatic carrier of a mtDNA
Fabrizio Farnetani, Vice mutation, D. Zuccarello, UOC di
President Mitocon Onlus Genetica ed Epidemiologia Clinica,
AOU Padova
Marzia Giulia Camera,
Mitocon Onlus 9:15
Updates on potentially harmful drugs for
mitochondrial patients, M. Mancuso, AOU
Pisana -Università di Pisa
D u ri ng th e w hol e d ay o f 9:30
S a tu rday 1 Ju n e t h er e w ill Sleeping disorders in mitochondrial
be acti vitie s f o r ch ild ren diseases, O. Bruni, La Sapienza
an d you ng pe o p l e in S ala Università di Roma
P r oper zio :
8 :3 0 -11:3 0 e nt er t ai nm e nt 10:00
1 1 :3 0 -13 : 3 0 M a g ic
Overview from the mitochondrial world -
T h er apy b y A nt o nia
part 1, A. Ardissone, Fondazione IRCCS
S y m eonid o u , A cadem y o f
Istituto Neurologico Carlo Besta, Milan
M a g ic & S c ie nc e,
C a m br idg e 10:30
1 5:0 0 -1 8: 3 0
e n ter tain m e n t Overview from the mitochondrial world -
part 2, C. Garone, MRC Mitochondrial
Biology Unit, Wellcome Trust,
Cambridge Biomedical Campus
11:00
Re-designing diagnostic and therapeutic
approaches to mitochondrial disorders
with magic tools: the WAMAZE project,
C. Garone, MRC Mitochondrial Biology
Unit, Wellcome Trust, Cambridge
Biomedical Campus
11:10
9th National Meeting on Mitochondrial Diseases Coffee Break
Holiday Inn Rome Eur Parco dei MediciActivities for patients 11:30
and families: Therapeutic cannabis: clinical
applications in chronic-
Plenary room degenerative diseases, C. Salvadori,
Integrated Medicine Physician, Pain
Moderators: Therapy and Cannabis Expert
Fabrizio Farnetani, Vice
12:00
President Mitocon Onlus
The role of the gastroenterologist in
Marzia Giulia Camera,
mitochondrial diseases: present
Mitocon Onlus reality and future commitments, M.
Carello, Ospedale Martini, Turin
12:30
Rare diseases without a diagnosis: from
classification to the search for a cure,
M. Macchiaiolo, Ospedale Pediatrico
Bambino Gesù, Roma
13:00
Extended neonatal screening: state of
the art and future prospects, G. Polo,
UOC Malattie Metaboliche Ereditarie,
Centro Regionale Screening Neonatale
Allargato, AOU Padova
13:30
Lunch
14:30 - 16:30
Activities for patients
Parents group: Together is possible,
and families: L. Gentile, Clinical Psychologist,
Workshops * Psychotherapist and Community Psychologist
MINERVA room
15:00 - 16:30
Doubts and questions on how to
improve the quality of life of
mitochondrial patients with
nutrition, M. G. Camera, Nutritionist
Biologist Mitocon Onlus
VENERE room
16:30
Mitosnack
* upon reservation
9th National Meeting on Mitochondrial Diseases
Holiday Inn Rome Eur Parco dei MediciActivities for patients 17:00 - 18:30
Managing the child at home,
and families: A. Mandelli, Resuscitation
Workshops * Anesthetist, Pediatric Intensive Care
Unit ASST FBF Sacco Presidio
Ospedaliero V. Buzzi, Milan and
C. Mastella, Rehabilitation Therapist,
SAPRE Coordinator, Unit of Child
and Adolescent Neuropsychiatry
Fondazione IRCSS Ca’ Granda -
Ospedale Maggiore Policlinico,
Milan
VENERE room
Respiratory physiotherapy,
M. Pelliccioni, Rehabilitation Therapist,
UILDM - Unione Italiana Lotta alla
Distrofia Muscolare Lazio
MINERVA room
LHON - ADOA Group,
CATULLO room
Specialist medical 15:00 - 17:30
consultations * Adults specialist medical consultation,
ARISTOTELE room
S. Servidei, Istituto di Neurologia,
Università Cattolica del Sacro Cuore,
Rome
15:00 - 17:30
Children specialist medical
consultaion,
CICERONE room
A. Ardissone, Fondazione IRCCS Istituto
Neurologico Carlo Besta, Milan
E. S. Bertini, IRCCS Ospedale Pediatrico
Bambino Gesù, Rome
20:00
Social aperitif/dinner and
Magic Show by Antonia
* upon reservation Symeonidou, Academy of
Magic & Science, Cambridge
9th National Meeting on Mitochondrial Diseases
Holiday Inn Rome Eur Parco dei MediciPATIENTS' PROGRAMME
SUNDAY 2 JUNE
10:00
Activities for patients
A day of food orientation in the
and families: mitochondrial patient, M. G. Camera,
Plenary room Nutritionist Biologist Mitocon Onlus
10:30
Presentation of Mitocon Onlus activities
11:00
Development of Mitocon Onlus territorial
committees
12:00
Closing
12:00 - 12:30
Meeting of Mitocon Onlus members
13:00
Lunch
9th National Meeting on Mitochondrial Diseases
Holiday Inn Rome Eur Parco dei MediciMitocon Insieme per lo studio e la cura delle
malattie mitocondriali Onlus
Via F. Benaglia, 13
00153 Roma
www.mitocon.it
For info:
+39 0666991333
segreteria@mitocon.it
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