Beatrice Vola
IPSCs GENERATION, CHARACTERIZATION AND DIFFERENTIATION FOR LGMDR4 PATIENTS
Autori
- YVAN TORRENTE (PH.D., LABORATORY OF STEM CELLS OF THE DEPARTMENT OF MEDICAL-SURGICAL PATHOPHYSIOLOGY AND TRANSPLANTATION, UNIVERSITY OF MILAN, FOUNDATION IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO IN MILAN, ITALY. – AUTHOR)
- GIULIO POMPILIO (PH.D., CENTRO CARDIOLOGICO MONZINO, MILAN, ITALY – CO-AUTHOR)
- MASSIMILIANO CERLETTI (PH.D., UCL RESEARCH DEPARTMENT FOR SURGICAL BIOTECHNOLOGY, UCL INSTITUTE FOR IMMUNITY AND TRANSPLANTATION, CENTRE FOR SURGICAL INNOVATION, ORGAN REPAIR AND TRANSPLANTATION (CSIORT), UNIVERSITY COLLEGE LONDON, LONDON, UK – CO-AUTHOR)
- CARLES SANCHEZ RIERA (PH.D., HISTOLOGY AND EMBRYOLOGY UNIT DAHFMO, LA SAPIENZA UNIVERSITY, ROME, ITALY. – CO-AUTHOR)
- FRANÇOIS GROS-LOUIS (PH.D., CENTRE DE RECHERCHE CHU DE QUEBEC, UNIVERSITÉ LAVAL, CANADA – CO-AUTHOR)
- BEATRICE VOLA (CHAIRMAN OF FAMILY GROUP OF BETA-SARCOGLYCANOPATHY (GFB FOUNDATION) – CO-AUTHOR)
Presentatore
CARLES SANCHEZ RIERA (PH.D., HISTOLOGY AND EMBRYOLOGY UNIT DAHFMO, LA SAPIENZA UNIVERSITY, ROME, ITALY.)
Modalità
Poster Session
Abstract
LGMDR3, LGMDR4, LGMDR5 are recessive autosomal devastating diseases with no specific treatments. In 2013 the Foundation named Family Group of Beta-sarcoglycanopathy (GFB Foundation; www.lgmd2e.org) was established to stimulate and support both basic and clinical research on these diseases. In 2023, GFB promoted and funded the IPSCs GENERATION, CHARACTERIZATION AND DIFFERENTIATION FOR LGMDR4 PATIENTS Project, to create a new tool to study this disease and to evaluate the impact of new therapies on these cells. Three cell lines of patients presenting cardiomyopathy were produced by Dr. F. Gros-Louis, Ph.D. at the Centre de Recherche CHU de Quebec, Université Laval, Canada. Two lines involve patients with mutation c.377_384dup in homozygosity on exon 3 and the third line with mutation c.341C>T and c.906insATGTTTG, in heterozygosity on exons 3 and 6 respectively. The lines produced will now be differentiated into cardiomyocytes by Dr. G. Pompilio, Ph.D., at Centro cardiologico Monzino, Milan, Italy. Subsequently, they will be differentiated into muscle tissue by Dr. Massimiliano Cerletti, Ph.D., at the UCL University College London in the UK and by Dr. Carles Sanchez Riera, Ph.D., at La Sapienza University, Rome, Italy. Dr. Yvan Torrente, Ph.D., at University of Milan, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico in Milan, Italy. will transform them into neuromuscular cells.