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Mouse model points to possible new strategy for treating rare muscle disease, kidney disorders

Based on clues provided by a study with transgenic mice, a research group at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has developed a strategy that will be tested as the first treatment for people with hereditary inclusion body myopathy (HIBM), a rare, degenerative muscle disease. In an unexpected finding, the research indicates that the approach also might benefit patients with certain kidney disorders.

The scientists, led by Marjan Huizing, Ph.D., an associate investigator in NHGRIs Medical Genetics Branch, report their findings in the June issue of the Journal of Clinical Investigation. The study was supported by the NHGRI Division of Intramural Research and was conducted in collaboration with researchers supported by the Howard Hughes Medical Institute (HHMI), Bethesda, Md., and the HIBM Research Group, Encino, Calif.

It is gratifying to see how the tools and technologies generated by the sequencing of the human genome are being used to uncover new strategies for treating genetic human disease, said NHGRI Director Francis S. Collins, M.D., Ph.D. This work also underscores the value of animal models in learning more about the pathways involved in human disease and how to target therapies that affect those pathways.

NHGRI Scientific Director Eric D. Green, M.D., Ph.D. said, We are excited by the possibility that this study may lead to new treatments for those who suffer from either HIBM or kidney dysfunction. This work is a solid example of translational research, where discoveries in the laboratory provide a way forward to aid patients dealing with a frustrating and debilitating inherited disorder.

HIBM is a genetic disease with non life-threatening symptoms that emerge in adulthood and lead to slowly progressive muscle weakness. Most patients develop symptoms while in their early 20s and become wheelchair-bound by the time they reach 40, as their arm, hand,
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Contact: Raymond MacDougall
macdougallr@mail.nih.gov
301-402-0911
NIH/National Human Genome Research Institute
1-Jun-2007


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