Comprendere i meccanismi che sono
alla base delle malattie genetiche umane
e sviluppare strategie preventive e
terapeutiche
MURAL RESEARCH:
FOCUS
RITICAL MASS
lethon’s role:
IP owner
developer
AMURAL RESEARCH:
FLEXIBILITY
PPORTUNITIES
lethon’s role:
no IP
er and catalyst
Three Telethon institutes financed by Telethon and competitive gra
Telethon Institute of Genetics and Medicine, founded in 1994 and base
Naples addresses different disease-related issues from basic to translat
studies
Telethon Institute for Gene Therapy, founded in 1995 with a collaborat
venture with San Raffaele Hospital and based in Milan
Dulbecco Telethon Institute, founded in 1999: a virtual institute, with
scientists hosted in public and non-profit institutions able to provide a
appropriate research environment (21 scientists hosted in 11 Institutes
Projects selected through competitive calls for grants
350 laboratories in Italy currently supported through Telethon grants
A variety of calls from exploratory projects to multicentre translational projects
Yearly call for proposals attracting hundreds of applicants
58 projects financed in 2013 for a total amount of ~13 million euro
Additional calls for clinical research in the neuromuscular field and for exploratory proje
Throrough review process by an indipendent scientific committee and several external
reviewers ensuring that grants are awarded to the best projects
ettore scientifico: Andrea Ballabio
ndato nel 1994 dalla Fondazione Telethon
eve finanziamenti quinquennali da Telethon, su rigorose valuta
iodiche
gruppi di ricerca indipendenti
0 persone tra ricercatori, personale tecnico e amministrativo
gramma di formazione altamente competitivo
vizi interni di supporto alla ricerca
cio scientifico
ologia dei sistemi e
bioinformatica
Biologia cellulare
Terapia molecol
alisi di trascrittomica
e genomica
Studio dei meccanismi
di base delle malattie
utilizzando modelli
cellulari e animali
Studi preclinici
modelli animali
malattia utilizzan
vettori virali
Sviluppo di modelli
cellulari per saggi
cellulari di high content
screening
Sviluppo e
ottimazione di nu
vettori virali
Sviluppo di modelli
tematici di processi
biologici
entificazione di reti
geniche
etodi per studiare il
posizionamento di
Studio del traffico di
membrana, trasporto
di proteine
Studio ed utilizzo
piccole moleco
come terapia pe
malattie genetic
Principali malattie studiate
Traffico di membrana (fibrosi cistica, displasia spondilo-epifisa
sindromi di Lowe, di Wilson e di Fanconi)
Malattie da accumulo lisosomiale (MPSI, MPSII, MPSIIIA, MPS
MPSVII, MSD, malattie di Pompe e di Fabri)
Degenerazioni retiniche (retinite pigmentosa e altre distrofie
retiniche)
Metabolismo epatico (iperossaluria primaria di tipo I, sindrome
Crigler-Najjar, deficit di alpha1-anti-tripsina)
Malattie neurodegenerative (Parkinson, Huntington)
Distrofie muscolari
Produzione di vettori virali
Bioinformatica
Microscopia avanzata
High-content screening
Sequenziamento di nuova generazione
Studio del comportamento animale
Università degli Studi di Napoli Federico II
Dipartimento di Scienze Mediche Traslazionali
Dipartimento di Ingegneria Elettrica e Tecnologie
dell’informazione
Azienda Ospedaliera Universitaria
Baylor College of
icine Texas Children
Seconda Università di Na
Dipartimento di Biochimica, Biofis
e Patologia generale.
rsi di dottorato
Open University - Genetica Umana
Scuola Europea di Medicina Molecolare (SEMM) - Genet
Umana (Università degli Studi di Napoli Federico II
Università di Milano)
Università degli Studi di Napoli Federico II - Biolo
Computazionale e Bioinformatica
Seconda Università degli Studi di Napoli - Genetica Medica
rsisti post-dottorato
Scouting di nuovi finanziamenti
Supporto nella scrittura di progetti per accedere a fondi interni ed este
Gestione scientifica di progetti internazionali
Coordinamento di programmi di Dottorato di Ricerca e Post-dottorato
Supporto nella scrittura e revisione di manoscritti scientifici
Gestione di collaborazioni con industrie
Organizzazione di convegni, disseminazione delle attività del TIGEM
web
Graciana Diez-Roux, PhD - Chief Scientific Officer, PhD Programmes
Dean
Bianca Fontanella, PhD – External Grants and Regulatory Affairs
Paola Cormio, PhD – Dissemination activities
Regulatory Affairs
from bench to bedside”
Assistere e guidare i ricercatori nei processi regolatori richiesti per
ortare i prodotti medicinali “dal bancone di laboratorio al letto de
aziente”.
Preparazione delle documentazioni richieste per ottenere udienze con i
membri delle commissioni delle Autorità Regolatorie (ISS, EMA, FDA) allo
scopo di ottenere consigli per la preparazione dei dossier.
Preparazione dei documenti per le Autorità Regolatorie: IMPD (qualità del
prodotto, dati riguardanti la sicurezza e l’efficacia del prodotto ottenuti in
seguito a sperimentazione non-clinica, protocollo clinico al quale verranno
sottoposti i pazienti).
Preparazione delle richieste di autorizzazione dei siti clinici (siti dove avverrà
la sperimentazione clinica) all’utilizzo dei prodotti medicinali.
> 250 articoli pubblicati dal 2007 (50 articoli/anno): in più del 50%, i group lead
del Tigem risultano come corresponding o ultimo autore
Impact Factor > 1758 dal 2007
Numerosi articoli pubblicati in riviste di altissimo livello come, ad esempio,
Nature, Science, Nature Neuroscience, New England Journal of Medicine, Cel
PNAS, Genome Research, etc.
90
80
70
60
50
40
30
20
10
0
2009
2010
2011
2012
2013
mid-2014
Number of publications
Total impact factor
INVENTORS
TITLE
Alberto Auricchio,
Enrico Maria
Surace, Markus
Hildinger
Use of compounds that
interfere with the hedgehog
signaling pathway for the
manufacture of a
medicament for preventing,
inhibiting, and/ or reversing
ocular diseases related with
ocular neovascularization
3/12/2004 US
Molecules able to modulate
the expression of at least a
gene involved in degradative
pathways and uses thereof
13/02/2009 EP
10/06/2009 US
provisional
Andrea Ballabio,
Marco Sardiello
PRIORITY
ACTIVE
APPLICATIONS
US granted
EP, CA, US, JP,
AU granted, NZ
granted, DIV NZ
Alessandro Fraldi,
Andrea Ballabio
Modification of a sulfamidase
enzyme to treat CNS
pathology in
Mucopolysaccharidosis type
III
22/12/10 PCT
EP, CA, US, JP,
AU
Andrea Ballabio,
Carmine
Settembre, Diego
Luis Medina
Sanabria
TFEB phosphorylation
inhibitors and uses thereof
07/03/2011
US provisional
EP, CA, US, JP,
AU, CN, BR, NZ,
KR
Andrea Ballabio,
Carmine
Settembre, Diego
Luis Medina
Sanabria
TFEB mutants and uses
thereof
23/12/2011
US provisional
08/02/2012
US provisional
EP, CA, US, JP,
AU, CN, BR, NZ,
KR
Andrea Ballabio,
Carmine
Settembre
Therapeutic approach for
treating obesity
15/06/2012
US provisional
PCT
OWNERSHIP
LICENSE
TIGEM.11.006
Andrea Ballabio,
Carmine
Settembre, Diego
Luis Medina
Sanabria
TFEB mutants and uses
thereof
23/12/2011
US provisional
08/02/2012
US provisional
TIGEM.11.010
Andrea Ballabio,
Carmine
Settembre
Therapeutic approach for
treating obesity
15/06/2012
US provisional
PCT
TIGEM.11.011
Parenti, Moracci,
Andria, ETC
Allosteric chaperones for use
in the treatment of Pompe
disease
06/06/2012
US provisional
PCT
TIGEM.12.002
Ballabio-Brunetti
Pierri-Pastore
TFEB gene therapy for AATD
19/04/2012
EP
PCT
FT
TIGEM.12.003
Auricchio, Colella,
Trapani
NOT PUBLISHED, PAPER
Effective delivery of large
genes by dual vectors
18/04/2013
US provisional
Priority US
FT
TIGEM.12.004
Banfi, Surace,
Conte, Karali
NOT PUBLISHED, NO PAPER
miRNA and uses thereof
11/03/2013
EP
Priority EP
FT
TIGEM.12.005
De Matteis,
D'Angelo
NOT PUBLISHED, NO PAPER
Inhibitors of FAPP2 and uses
thereof
03/07/2012
US provisional
US provisional
Priority US
FT
TIGEM.12.011
Andrea Ballabio,
Giancarlo Parenti
NOT PUBLISHED, PAPER
Gene therapy for Pompe
disease
17/10/2012
US provisional
PCT
FT
TIGEM.13.008
Enrico Surace,
Salvatore Botta;
Elena Marrocco
NOT PUBLISHED, NO PAPER
Artificial transcription factors
and uses thereof
20/11/2013
EP
Priority EP
FT
FT
FT
FT
FT
FT
FT (50%), CNR
(30%), UniNa
(20%)
YES
FT
FT
EP, CA, US, JP,
AU, CN, BR, NZ,
KR
YES
YES
FT
- 12 brevetti depositati
Annual average per funding period
Annual amounts
TIGEM/NRI
NRI
University
funds
UniNA
FED
II - SU
Industrial
FT
- Collaborazio
collaborations
industriali
External
Grants
FT
- Fondi
est
/00
8
9
/03
0
0
/06
3
0
/11
6
0
/12
1
1
1
et
g
ud
b
3
2/1
Telethon
FT
- Fondi Tel
% of self financing
20%
44%
59%
63%
70%
86%
NRI: funds dedicated to the TIGEM lab hosted at the Neurological Research Institute (NRI) at Baylor College of Medicine
da cui sono stati ricevuti finanziamenti
National Health Institute (NIH)
March of Dimes
Beyond Batten Disease Foundation
PKD Foundation
Muscular Dystrophy Association
Mucopolysaccharidosis Society
Foundation Fighting Blindness
Children Living with Inherited Metabolic
Diseases
Team San Fillipo
The Sanfilippo Children's Research
Foundation
Cystinosis Research Foundation
United Mitochondrial Disease Foundation
Oxalosis and Hyperoxaluria Foundation
European Commission
European Research Council
EMBO
Foundation Jerome
Lejeune
The Wellcome Trust
MPS España
AIRC
Ministero della Salute
Ministero dell’Istruzione,
dell'Università e della
ropean Research Council (ERC)
-
Starting investigator grant (2010) - P. Cosma (CRG Barcelona)
Advanced investigator grant (2010) - A. Ballabio
Consolidator investigator grant (2011) - A. Auricchio
Consolidator investigator grant (2011) - M. Sandri
Consolidator investigator grant (2012) - N. Brunetti
Consolidator investigator grant (2012) - E. Surace
Advanced investigator grant (2015) - A. De Matteis
ogetti EU collaborativi
2006
partecipazione a 18 progetti europei
oordinamento di 7 progetti: AAVEYE, EUCILIA, COBIOS, CARDIOGENET,
EuREXPRESS, EuCLYD e MeuSIX (progetto per finanziare il trial clinico fase I/II
16/05/02
V PQ - 3° bando '01
GASPARINI PAOLO participant
01/01/04
VI° PQ
MARIE CURIE ACTION
01/01/04
VI° PQ
BALLABIO ANDREA
participant
RUGARLI ELENA
participant
01/03/04
01/05/04
01/01/05
01/01/05
01/01/05
01/03/05
01/04/05
01/04/05
01/07/05
01/04/06
01/12/06
01/02/07
01/02/07
06/06/07
01/02/08
01/05/08
01/10/08
01/11/08
01/02/09
01/03/09
01/03/10
01/06/10
VI° PQ
VI° PQ
Network of Excellence
VI° PQ
Integrated Project
VI° PQ
Integrated Project
PROGRAMMA NEST
SYNTHETIC
6PQ
VII PQ
Collaborative Project
ZOLLO MASSIMO
participant
BALLABIO ANDREA
coordinatore
STUPKA ELIA
coordinatore
STUDER MICHELE
Coordinatore
BALLABIO ANDREA
participant
AURICCHIO ALBERTO
participant
BANFI SANDRO
participant
ANDREA BALLABIO
coordinatore
AURICCHIO ALBERTO
participant
BALLABIO ANDREA
participant
BALLABIO ANDREA
participant
DI BERNARDO DIEGO
coordinatore
DI BERNARDO DIEGO
FRANCO BRUNELLA
coordinatore
VII PQ
Collaborative Project
VI° PQ
VI° PQ
VI° PQ
VI° PQ
VI° PQ
Coordination Action
VI° PQ
NoE
VI° PQ
VI° PQ
VII PQ
MARIE CURIE
VII PQ /European
Commission
VIIPQ
Large scale integrating
project
VII PQ /European
Commission
ERC AdvancedGrant
VII PQ
Collaborative Project
01/12/10
MARIE CURIE (IOF)
01/01/11
VIIPQ
Large scale integrating
project
01/10/11
FP7-KBBE-2011
01/01/12
ERC StartingGrant
VIIPQ
Marie Cuire
ERC StartingGrant
01/11/12
01/11/12
GASPARINI PAOLO participant
GENDEAF: European network on GENetic DEAFness: pathogenic mechanism, clinical and molecular diagnosis. Social
impact
3
RETNET: European retinal research training network
4
SPASTICMODEL: Genetics models of chronic neuronal degeneration causing hereditary spastic pareaplegia
3
EUGINDAT: European Genomics initiative on disorders of plasma membrane amino acid transporter
3
BRECOSM: Identification of molecular pathways that regulate the organ-specific metastasis of breast cancer
3
EUREXPRESS: Eurexpress a European consortium to generate a web-basewd gene expression atlas by RNA in situ:
4
TRANSCODE: Novel Tool for high-throughput characterization of genomic elements regulating gene expression in
chordates
INTERDEVO: Gene networks in cortical interneuron development: modelling interneuron function in health and
disease
PRIME Priorities for mouse functional genomics research across Europe: integratine and strengthening research in
Europe
3
3
3
DIMI: Diagnostic Molecular Imaging
5
EVI-GENORET: Functional Genomics of the Retina in Health and Disease
4
FLPFLEX: A flexible toolkit for controlling gene expression in the mouse
3
CLINIGENE: European Network for the advancement of clinical gene transfer and therapy
5
AnEUploidy: understanding gene dosage imbalance in human health using genetics, functional genomics and
systems biology
4
EUMODIC: The European mouse disease clinic. A distributed phenotyping resource for studying human disease
4
COBIOS: Engineering Controllers for BIOlogical Systems: a new way to tackle complex diseases and biotechnological
innovation
Towards a European Synthetic Biology Community: SynBioComm
3
6 mesi
EUCILIA: Pathophisiology of rare diseases due to primary ciliary dysfunction"
3
BALLABIO ANDREA
Coordinatore management
EUCLYD: A european Consortium for Lysosomal Storage Disease"
3
BANFI SANDRO
EYEmicroRNAs: Study of micrornas in non-retinal parts of the eye
3
AURICCHIO ALBERTO
coordinatore
AAVEYE - Gene therapy for inherited severe photoreceptor diseases
3
BANFI SANDRO
partecipante
TECHGENE: Technological innovation of high throughput molecular diagnostic of clinically and molecularly
heterogeneous genetic disorders
3
BALDINI ANTONIO
coordinatore
BALLABIO ANDREA
FRANCO BRUNELLA
partecipante
DI BERNARDO DIEGO
coordinatore
CARDIOGENET - Definition of a genetic network involved in congenital heart disease
4
CLEAR: Modulating cellular clearance to cure human disease
5
SYSCILIA: A system biology approach to dissect cilia function and its disruption in human genetic disease.
5
TIGRE:Targeting glucorticoid resistance in T-ALL: a system Biology approach
3
DI BERNARDO DIEGO
partecipante
MODHEP: Systems biology of liver cancer: an integrative genomic-epigenomic approach
5
DI BERNARDO DIEGO
partecipante
AURICCHIO ALBERTO
BIOPREDYN: From data to models: new bionformatics methods and tool for data-driven, predictive dynamic
modelling in biothnoligical applications.
RETGENTX: Overcoming the challenge of large gene transfer for the therapy of inherited retinal diseases
5
BANFI SANDRO
EyeTN: Beyond the Genome; training the next generation of ophthalmic researchers
4
BRUNETTI NICOLA
IEMTx: Therapies for inborn errors of metabolism
5
3
Progetti EU collaborativi - Coordinatori
Projet acronim
Project title
EUCILIA
VII PQ
Pathophisiology of rare diseases due
to primary ciliary dysfunction
EuCLYD
A European Consortium for
Lysosomal Storage Diseases
European Commission FP7
AAVEYE
European Commission FP7
CARDIOGENET
European Commission FP7
COBIOS
PROGRAMMA NEST
SYNTHETIC
EuREXPRESS
VI° PQ
MeuSIX
European Commission FP7
Gene therapy for severe neuronal
photoreceptor diseases
Definition of a genetic network
involved in congenital heart disease.
EC
contribution
€ 2,361,580
€ 994,710
€ 2,970,000
€ 2,680,000.00
Engineering Controllers for BIOlogical € 709,800
Systems: a new way to tackle
complex diseases and
biotechnological innovation
Eurexpress a European consortium
to generate a web-basewd gene
expression atlas by RNA in situ
€ 2,361,580
Clinical trial of gene therapy for MPS € 5,995,041.00
VI - a severe lysosomal storage
mpany
Topic of collaboration
viano Medial Sciences, Italy
Algorithms for drug discovery
mm, Italy
Fun
€ 60.00
High resolution transcriptome atlas
Med, International
Retina neovascularization treatments
zyme, International
Modified lysosomal enzymes
€ 30.00
€ 180.00
naBiotech, Italy
Drug discovery for genetic diseases
mpe’, Italy
Mechanisms of drug action
marin, CA, USA
High content screening
€ 950.00
e HGT, Switzerland
Gene therapy in MPSII
€ 374.00
e HGT, Switzerland
Large sponsored research agreement on
three strategic programs: TFEB delivery in
neurodegenerative disorders, small
molecules for Fabry disease and CNS gene
therapy
€ 17.500.00
Il nuovo TIGEM a Pozzuoli
0 metri quadri riconvertiti a laboratori, uffici e servizi alla rice
di laboratori open space, 4 sale riunioni, 30 uffici per ricerca
ersonale amministrativo, spazi dedicati a microscopia, col
