Inherited musculoskeletal disorders: molecular genetics, cellular mechanisms and therapies

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My goal is to understand the causes of inherited muscular dystrophies and disorders affecting development of the skeleton. I study muscular dystrophies caused by collagen VI mutations, provide diagnosis for patients and families, and identify how and why the changes cause muscle disease. I am searching for genes that modify muscular dystrophy severity and exploring potential therapies. I discovered a new gene for inherited arthritis and am searching for genes for other skeletal disorders.