MDA has awarded a research grant totaling $251,596 over two years to Shireen Lamande, senior research fellow and group leader for muscular dystrophy research and musculoskeletal disorders at Murdoch Childrens Research Institute in Parkville, Victoria, Australia. The new funds will help support Lamande’s research into the identification of new genes responsible for two types of congenital muscular dystrophy (CMD), Bethlem myopathy and Ullrich congenital muscular dystrophy.
Lamande and colleagues plan to identify new genes responsible for collagen 6-related congenital muscular dystrophies, and determine how and why mutations associated with the genes cause muscle disease.
To date, the study team has screened 100 people with Bethlem myopathy and Ullrich CMD, and has found collagen 6 mutations in 62. The remaining 38 do not have collagen 6 mutations, an indication that other, as yet unidentified, genes also underlie these disorders.
Of the 38 individuals whose mutations were unknown, the investigators have identified new mutations in 11. They now plan to use a variety of methods to examine the newly uncovered genes, and identify those that are new muscular dystrophy candidate genes.
Results from Lamande’s work should improve the diagnostic process for individuals and families, and increase scientists’ understanding of muscle biology and disease.
Funding for this MDA grant began February 1, 2011.