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This section contains the latest research and open grants going on with EDMD. This is not an all-inclusive list and there may be other research out there that benefits EDMD but may be classified as being developed for another disease. We will work to try to bring those research materials and information out to you as well. This section will be updated regularly.
New York - Columbia University College of Physicians and Surgeons
Howard J. Worman, M.D
Treatment of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
$103,631.00 7/1/2010 6/30/2011 Year 1
$103,631.00 7/1/2011 6/30/2012 Year 2
$103,631.00 7/1/2012 6/30/2013 Year 3
Summary: The life-threatening complication of Emery-Dreifuss muscular dystrophy is a disorder of the heart muscle known as cardiomyopathy. When this is advanced, the only currently available curative treatment is heart transplantation. We have shown in a mouse model of Emery-Dreifuss muscular dystrophy that treatment with drugs that inhibit enzymes known as MAP kinases prevent the development of cardiomyopathy and improves heart function after deterioration has already begun. Similar drugs have already been given to humans for other indications. We now propose to expand our pre-clinical studies on MAP kinase inhibitors to treat cardiomyopathy in Emery-Dreifuss muscular dystrophy with the ultimate goal of developing treatments for human patients with the disease. In this new project, we will examine novel MAP kinase inhibitors in additional mouse models of Emery-Dreifuss muscular dystrophy.
2. Ji-Yeon Shin Ph.D
LAP1 involvement in the pathology of Emery-Dreifuss muscular
$60,000.00 7/1/2010 6/30/2011 Year 1
$60,000.00 7/1/2011 6/30/2012 Year 2
$60,000.00 7/1/2012 6/30/2013 Year 3
Summary:Although diagnosis for Emery-Dreifuss muscular dystrophy (EDMD) has been improved by the discovery of the most common genetic mutations that cause this disease, we still have a poor understanding of how these mutations cause muscular dystrophy. I have discovered that proteins encoded by the genes mutated in most cases of EDMD interact with another protein with an unknown function. I will study how this protein affects well-defined signaling pathways and muscle cell function in cultured cells and in mice. The research will lead to a better understanding of how specific genetic mutations cause EDMD. This will enable us to identify new processes, such as cell signaling pathways, that could be targets for the development of novel drugs to treat EDMD.