Generation and Characterization of Dysferlin Deficient and Myoferlin Deficient Muscle Cells

Objective: 
An important prerequisite to aid the development of effective treatments for dysferlinopathy is the development of muscle cell lines that are deficient for dysferlin and also those in which, in addition to dysferlin, myoferlin (and FER1L5) are knocked down

Original project description:

Past

Vesicle Characterization, Secretion and Proteomics

Objective: 
Proteomic assessment of vesicle secretion in human dysferlin null cells

This project examines the role of dysferlin in the trafficking and secretion of different classes of vesicles in differentiated myotubes compared to the immature myoblast precursor cells. The hypothesis is that dysferlin may be critical for the release of a specific class of vesicles that promote either unidirectional or reciprocal signaling between the myoblast and the mature myotube.

Past

Gillian Butler-Browne, PhD

Institut de Myologie (Paris, France)

Dr. Butler-Browne leads the Remodeling, Regeneration and Cell Therapy of Striated Muscle team at the Institut de Myologie (Paris, France).

Past Projects

Rumaisa Bashir, PhD

University of Durham (Durham, UK)

Dr. Bashir is a Lecturer in Biological and Biomedical Sciences, School of Biological and Biomedical Sciences, University of Durham (Durham, UK).

Past Projects

Patient Story

Description: 
Bathri
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Summary: 
During my school days I was an active sports person playing cricket and volleyball and represented my district in Tamilnadu, India. I also maintained the right balance between my studies and sports, which helped me to get in to a government medical school by merit.

About the Disease

Description: 
LGMD2B/Miyoshi Myopathy (collectively called dysferlinopathy) are rare forms of muscular dystrophy caused by mutations in the dysferlin gene. For the disease to occur both copies of the dysferlin gene must be defective (recessive inheritance).
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Contact Us

Jain Foundation Inc.
9725 Third Avenue NE, Suite 204
Seattle, Washington 98115
USA

Administrative or Scientific Inquiries
Phone: (425) 882-1492
Fax:  (425) 658-1703
Email:

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