Telethon, researchers and patient associations: working together to support scientific research. Harmonize Williams Syndrome in Europe

Transcript

1 Telethon, researchers and patient associations: working together to support scientific research Danila Baldessari Research program manager Scientific Office Fondazione Telethon Harmonize Williams Syndrome in Europe Rome, 17th October 2015

2 SUMMARY Telethon since 25 years Mission and Vision Strategy and Excellence The «ladder of research» and the collaborative model to climb it Focus: Telethon-funded research on Intellectual disabilites Harmonize Williams Syndrome in Europe 2

3 Telethon since 1990 Mission To advance biomedical research towards the treatment of genetic diseases Vision To make available as therapies the results of the excellent research selected and sustained over time Our choice: to fund research on rare genetic diseases neglected by major public and private investments Harmonize Williams Syndrome in Europe 3

4 The virtuous circle Strategy Merit Efficiency Transparency, Comunication to verify to report to fulfil the promise Society Harmonize Williams Syndrome in Europe The «need» and the «object» Legitimacy Support 4

5 The strategy: a broad portfolio of funding initiatives Intramural research 161 M Investment 302 Grants Telethon Institute of Genetics and Medicine Napoli HSR-Telethon Institute of Gene Therapy Milano Dulbecco Telethon Institute Career Program Steering and management Key facts M Research investment Research grants Researchers funded 450 Genetic diseases studied IL RUOLO DI TELETHON Extramural research 262 M Investment Grants RESEARCH PROJECTS General projects Neuromuscular clinical projects - UILDM Program projects Exploratory projects Collaborative projects Genetic Biobanks Alleanze internazionali International Rare Diseases Research Consortium Harmonize Williams Syndrome in Europe Funding and support 5

6 The method: Merit selection leading to successful results Merit selection: Peer review process Call for projects, research program managers, Scientific Committee, External Reviewers, Plenary discussion (research projects 2015: funded) Results of the funded research: excellent publications : 9644 publications world-wide recognized (2013: 577 publications). Citation index > Oxford (UK), NIH (USA), MRC (UK); Harvard (USA), Stanford (USA), Yale (USA) Harmonize Williams Syndrome in Europe 6

7 The goal: to climb the research ladder THERAPIES CLINICAL TRIALS Safety and efficacy tested on patients PRECLINICAL RESEARCH In vitro and in vivo models (laboratory, animal models) BASIC RESEARCH Gene Identification - study of the molecular disease s mechanism DIAGNOSTIC, OBSERVATIONAL AND PALLAITIVE STUDIES Each research step not only is necessary for the development of a therapy but also it can lead to a direct improvement of the quality of life Harmonize Williams Syndrome in Europe 7

8 The collaborative model: commitment of the stakeholders Research Development Delivery Basic Research Pre-clinical Research Pre-clinical Development Clinical trials Therapy production and and fruibility Public Funds Patients Associations Gap competencies and funds Telethon Pharmaceutical Industry Harmonize Williams Syndrome in Europe 8

9 The Telethon galaxy of activities Trial Readiness Registries Research development Research projects Scientists Industrial Partnerships Filo Diretto Partnership Empowerment Biobanks Harmonize Williams Syndrome in Europe 9

10 Telethon Research on intellectual disabilities SINCE 1991 Williams syndrome 200 Research Projects 7 (1 Career) 174 Scientists PI 6 71 Research Centres 54 Diseases studied Investment SCIENTIFIC RESULTS 1003 publications 30 on WS total citations 15,4 avarage citations PROJECTS ON 41 Research projects 2 62 PI 3 35 Research Centres Investment 3,4% 14,5% 68,3% 7,6% SUDY OF MECHANISMS 6,2% IDENTIFICATION OF GENETIC DEFECT Funds distribution (% total) THERAPY PRE-CLINICAL STUDY IN CELL MODELS DIAGNOSTIC, OBSERVATIONAL AND PALLAITIVE STUDIES CLINICAL TRIAL PRE-CLINICAL IN ANIMAL MODELS Harmonize Williams Syndrome in Europe Fonte: TRic database, Telethon, Maggio

11 Take home message RESEARCH THERAPIES CLINICAL TRIALS PRECLINICAL RESEARCH BASIC RESEARCH DIAGNOSTIC, OBSERVATIONAL AND PALLAITIVE STUDIES Harmonize Williams Syndrome in Europe 11

12 Thank you! Danila Baldessari Fondazione Telethon Piazza Cavour, 1 - Milano dbaldessari@telethon.it

13 Backup

14 Ricerca Telethon sulle disabilita intellettive - Dettaglio - Focus sulle malattie con una forte componente di disabilità intellettiva che hanno ricevuto un Finanziamento Telethon > 1 milione di Euro MALATTIA FINANZIATO PROGETTI (dal 1991) PROGETTI ATTIVI RICERCATORI PUBBLICAZIONI Disabilità intellettiva legata all'x ,84 20 * Encefalomiopatie mitocondriali , Sindrome Rett , Autismo , Sindrome di DiGeorge ,73 10 * Sindrome da X fragile ,89 14 * Sindrome di Williams ,80 7 * Sindrome di Down , CDKL5 Sindrome di Rett associata a forme epilettiche , Fonte: TRic database, Telethon, Sept 2015 Questi progetti includono anche una CARRIERA TELETHON (DTI Dulbecco Telethon Institute) 14

15 Valorizziamo il merito: il processo di selezione Peer review Fase Responsabile # progetti Pubblicazione bando e analisi dei progetti Telethon Research program Managers Valutazione dei progetti 3 membri indipendenti della commissione 3 membri commissione scientifica + 2 revisori esterni Discussione Plenaria 33 membri della commissione scientifica 82 4 Approvazione/assegna - zione dei fondi Telethon Board of Directors 33 15

16 I risultati della ricerca finanziata: uno standard di eccellenza mondiale Citation index: Numero medio di citazioni/paper* quinquenni mobili CONFRONTO INTERNAZIONALE 18 Ref: Thomson Reuters e Telethon TRic database, giugno 2014 CONFRONTO TRA ISTITUTI Telethon Cambridge (UK) 16, USA Italia Oxford (UK) Telethon (Italy) NIH (USA) MRC (UK) 16,16 16,08 16,05 15, Europa Harvard (USA) Stanford (USA) 15,56 14,7 Yale (USA) 13, : 9644 articoli pubblicati su riviste scientifiche internazionali. Nel 2013: 577 pubblicazioni * Aree delle pubblicazioni per la ricerca biomedica (biologia e biochimica, medicina clinica, immunologia, biologia molecolare e genetica, neuroscienze e comportamento) 16

17 TNGB: Telethon Network of Genetic Biobanks Biobank 1 Cell lines and DNA Bank from patient affected by Genetic Diseases (Filocamo, Genoa) Disease focus Metabolic and White matter disorders 2 Galliera Genetic Bank: DNA, Cell lines and Tissue samples (Baldo, Genoa) Several diseases Agreement with Associations Lesch-Nyhan, FOP, Poland Dravet, Ring14, Mowat Wilson, Dup15Q 3 Human Genetic Bank of patients affected by Parkinson Disease (Goldwurm, Milan) Parkinson s Disease 4 Cell and DNA Bank of Rett Syndrome and other X-linked mental retardation (Renieri, Siena) Mental Retardation ILA, Rett, Alport 5 Neuromuscolar Bank of Tissues and DNA samples (Pegoraro, Padua) 6 Bank of DNA, Cell lines and Nerve-Muscle-Cardiac tissues (Moggio, Milan) 7 Cells, tissues and DNA from patients with Neuromuscular Diseases (Mora, Milan) Joint neuromuscular Biobanks 8 Genomic Disorders Biobank (Merla, San Giovanni Rotondo) Williams Syndrome PWS 9 Naples Human Mutation Gene BioBank (Politano, Naples) Neuromuscular and cardiomyopathies 10 Cell line and DNA bank of pediatric movement disorders (Garavaglia, Milan) Pediatric disorders 11 Biobank of Genetic Samples (Sangiorgi, Bologna) Bone diseases 780+ genetic diseases samples stored (DNA/RNA, tissues, cell lines) samples distributed/year Milan 4 biobanks Genoa 2 biobanks Bologna 1 biobank Padua 1 biobank S. Giovanni Rotondo 1 biobank Biobank applications are selected for funding by the Telethon Biobanks Committee through the peer review system Siena 1 biobank Naples 1 biobank 17

18 Risultati rilevanti per la vita dei pazienti Ad oggi grazie ai finanziamenti Telethon: 1 terapia è al vaglio delle autorità regolatorie per essere resa disponibile a tutti i pazienti che ne avranno bisogno (Ada-Scid). 10 malattie genetiche sono oggetto di studio clinico (leucodistrofia metacromatica; sindrome di Wiskott-Aldrich; beta talassemia; distrofia muscolare di Duchenne; amaurosi congenita di Leber; sindrome di Stargardt; malattia di Pompe; encefalopatia etilmalonica; sindrome di Marfan, insonnia fatale familiare). Circa 20 nazionalità coinvolte in questi studi. Oltre 400 bambini e adulti affetti da malattie genetiche rare aiutati e coinvolti in studi clinici finanziati da Telethon. 18