MDA has awarded a research grant totaling $299,722 over three years to Peter Kang, assistant professor of neurology at Harvard Medical School and director of the electromyography laboratory at Children’s Hospital Boston. The funds will help support Kang’s research into identification of gene mutations that can cause limb-girdle muscular dystrophy (LGMD).

"More than 18 different genes have been linked to various forms of LGMD," Kang said. "Each subtype is rare, but in combination the LGMDs comprise a major class of inherited muscle diseases."

Kang and colleagues have gathered and analyzed DNA samples from a number of families affected by LGMD. The investigators will use both the traditional technique called "linkage analysis," and the newer "whole-genome sequencing" to find the new genes, after which they plan to determine which of those identified are likely to be causative mutations.

Whole-genome sequencing is expected to become widely available, probably on a clinical or even direct-to-consumer basis, within a few years, Kang noted. The major question that will surround the enormous volume of data will be clinical interpretation. This project will illustrate how whole-genome sequencing results can be meaningful for individual patients, and may serve as an example of how they can be applied in non-research settings.

The identification of additional LGMD-related genes is expected to expand scientists’ knowledge of muscle disease processes, and potentially lead to new therapeutic strategies for a number of LGMDs and other muscular dystrophies.

"The importance of MDA funding for a project such as this is enormous," Kang said. "MDA is one of the most significant funding agencies for research in this field, and has had a major impact on advancing our knowledge of neuromuscular diseases."

Funding for this MDA grant began February 1, 2011.