Madhuri Hegde, associate professor and scientific director at Emory Genetics Laboratory, Emory University in Atlanta, was awarded an MDA research grant totaling $262,928 over two years to identify genes that, when mutated, cause congenital muscular dystrophy (CMD).

A significant number of CMD-associated genes have been identified, but in approximately 30 to 40 percent of occurrences of the disease the causative gene remains unknown.

“As understanding of disease mechanisms and the function of the genes involved in the pathology of CMD grows, new cutting-edge therapies may be developed for the cases in which causative genes are currently unknown,” Hedge says.

Hegde and colleagues are working to identify more genes associated with CMD, using a variety of both traditional and next-generation methods designed to determine a person’s entire genetic makeup, such as whole-genome genotyping and whole and targeted next-generation genomic sequencing.

The team also is focusing on understanding the genotype-phenotype relationship (the correlation of clinical differences with particular mutations) and developing a map of the CMD muscle genome (complete set of DNA), transcriptomes (the set of all molecules of RNA, a chemical cousin to DNA), and proteosomes (protein complexes).

“Next generation sequencing has revolutionized our ability to find new disease-causing genes, but it has not yet been widely applied to neuromuscular diseases,” Hedge says. “Research on new therapies is moving at a rapid pace, so it is important to identify the molecular defect in patients.”

Funding for this MDA grant began Aug. 1, 2012.