Inherited musculoskeletal disorders: molecular genetics, cellular mechanisms and therapies [ 2013 - 2017 ]

Research Grant

Researchers: A/Pr Shireen Lamande (Principal investigator)

Brief description 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.

Funding Amount $AUD 621,458.93

Funding Scheme Research Fellowships

Notes Research Fellowship