19 Aprile 2013

9.15  Greetings and presentation of the day

Alberto Fontana, President of UILDM (Italian Union Against Muscular Dystrophy)    watch the video

Vola Beatrice, President of GFB ONLUS (Family group of Beta-sarcoglycanopathy NPO) watch the video

SESSION I   Gene e pharmacological therapy

Chairmen: Roberto Maggi, Vincenzo Nigro

9.30 Jerry Mendell (Columbus)  watch the video

Gene Therapy experience at Nationwide Children's Hospital

Prof. Jerry Mendell Research Institute at Nationwide Children's Hospital, Director of Gene Therapy Center and Director of Wellstone Muscular Dystrophy Clinical Research Center Columbus OH (USA)

9.50 Louise Rodino – Klapac (Columbus)   watch the video

Beta-sarcoglycan gene therapy and laying the foundation for a clinical trial

Dr.ssa Louise Rodino – Klapac Research Institute at Nationwide Children's Hospital and  Wellstone Muscular Dystrophy Clinical Research Center, Columbus OH (USA)

10.10 Vincenzo Nigro (Napoli)    (watch the video)

New systemic gene therapy using AAV of the sarcoglycanopathy of the hamster

Ordinario di genetica medica alla Seconda Università di Napoli   Ricercatore TIGEM

10.30 Pascal Laforet (Parigi)  watch the video

A phase I trial of AAV1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C

Centre de référence Pathologie Neuromusculaire  Paris-Est Neuromuscular center Hôpital Pitié-Salpêtrière, Paris  (FR)

10.50 Isabelle Richard (Parigi)     (not published)

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum  quality control

Genethon  - CNRS  Lambe  Evry  (FR)

11.10 Coffee break

SESSION II  Cell and Pharmacological therapy

Chairmen: Massimiliano Cerletti, Anna Ambrosini

11.40 Massimiliano Cerletti (Boston)    watch the video

Muscle stem cells and tissue repair

Group Leader Principal Investigator/Muscle Stem Cell Unit  Progenitor Labs Ltd London BioScience Innovation Centre   London  (UK)

Department of Stem Cell and Regenerative Biology Harvard University  Cambridge, MA  (USA)

12.20 Gerli Mattia (Londra)  watch the video

Transplantation of iPS cell-derived in mice with LGMD2D

UCL Faculty of Life Sciences - Cell & Developmental Biology Department London UK

12.40 EXPLORATORY PROJECTS TELETHON

Introduction by Anna Ambrosini (Milano)   watch the video

Fondazione Telethon  Milano

Dorianna Sandonà (Padova)    watch the video

Pharmacological recovery of misfolded proteins: a new approach for the treatment of sarcoglycanopathy

Dipartimento di Scienze Biomediche, Università di Padova

Gian Maria Fimia (Roma)  (coming soon)

Autophagy in muscle cells: physiological role and possible defects in limb-girdle muscular dystrophies

Istituto Nazionale per le Malattie Infettive “Lazzaro Spallanzani” IRCCS  Roma

Elisabetta Gazzerro (Genova)    (coming soon)

Ruolo dell’adenosina trifosfato (e-ATP) e dei recettori purinergici nella patogenesi della distrofia muscolare da deficit di alfa-sarcoglicano (LGMD2D)

IRCCS Istituto G. Gaslini - Dipartimento di Scienze Pediatriche  Università di Genova

13.30  Lunch break

SESSION III   Clinical aspects and community

Chairmen: Roberto Maggi, Paola Bonetti

14.30 Grazia D'Angelo (Lecco)    watch the video

Drug therapies in limb-girdle muscular dystrophies

Unità Neuromuscolare- IRCCS  E Medea- Bosisio Parini Lecco

14.50 Corrado Angelini (Padova)  (coming soon)

Clinical aspects of sarcoglycanopathy

IRCCS "S. Camillo" dipartimento di Neuroscienze Lidò

15.10 Paolo Banfi (Milano)   watch the video

Respiratory problems in sarcoglycanopathy

Nucleo Malattie Neuromuscolari, Fondazione Don Gnocchi, Milano

15.30 Giacomo Comi (Milano)    watch the video

An Italian register for limb-girdle dystrophies

Fondazione Ca’ Granda Ospedale Maggiore Policlinico  Università degli Studi di Milano

15.50 Claudio Semplicini (Padova)   (coming soon)

Limb-girdle dystrophy type 2E: clinical, genetic and histopathological characteristics of a large number of European patients

Dipartimento di Neuroscienze, Università degli studi di Padova

16.10 Maria Lisa Dentici (Roma)    watch the video

The project Orphanet

IRCCS Ospedale Pediatrico Bambino Gesù Roma

16.30 Some families talk about their experiences

Emanuela Pozzan   Patient with LGMD2C   watch the video

Paola Maggiolo  Mother of patient with LGMD2E    watch the video

16.50 Conclusions

Beatrice Vola President of GFB ONLUS  watch the video

SCIENTIFIC COMMITTEE

Prof. Roberto Maggi Dip. Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano

Dr.  Massimiliano Cerletti (speakers)

Dr.ssa Berardinelli Angela Struttura Complessa di Clinica Neurologica e Psichiatrica dell’Età Evolutiva, Centro di Riferimento regionale per le Malattie neuromuscolari In Età Evolutiva, Istituto Mondino, Pavia

Dr.ssa Paola Bonetti Center for Genomic Science of IIT@SEMM Fondazione Istituto Italiano di Tecnologia (IIT) Milano