LGMD

 

 

 

Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). To date, 33 different forms of LGMDs were discovered according to the mutated gene and their inheritance pattern.

At I-Stem we are using pluripotent stem cells to study and identify treatments of LGMDs caused by mutation the genes coding for alpha sarcoglycan, gamma sarcoglycan, FKRP and dysferlin. Our main goal to identify new drug candidates by high throughput screening and drug repurposing.

 

 

Equipe :

 

Xavier Nissan : Research Director (CECS)
Lucile Hoch : Researcher (CECS)
Celine Bruge : Engineer / Phd Student (CECS)
Manon Benabides : Engineer (CECS)
Emilie Pellier : Engineer CECS
Lucille Rossiaud : Engineer CECS

 

Former members :

  • Marine Geoffroy (Engineer UEVE)
  • Eddy Quelennec (Engineer UEVE)

 

 

Publication :

To learn more about LGMD :

https://www.afm-telethon.fr/myopathie-ceintures-1390

https://lgmd.afm-telethon.fr/

Collaborations:

 

  • Isabelle Richard (Genethon)
  • Giuseppe Ronzitti (Genethon)
  • Stephane Vassilopoulos (Institut de myologie)
  • Vincent Mouly (Institut de myologie)
  • Marc Bartoli (UMR910)
  • Nicolas Wein (Ohio university)