MDA awarded a research grant totaling $300,009 over three years to Yosef Gruenbaum, professor and elected chairman at the Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem, in Israel. The funds will help support Gruenbaum’s study of proteins called lamins and their role in muscle diseases such as Emery-Dreifuss (EDMD) and limb-girdle (LGMD) muscular dystrophies, and Charcot-Marie-Tooth disease (CMT).
Relatively little is known about the biological pathways that are affected in muscle cells that have lamin defects, and why these changes lead to muscular dystrophy, Gruenbaum says. Now, using a nematode (worm) model of EDMD, Gruenbaum and colleagues are studying those pathways.
The investigators will use a variety of techniques in structural biology, genetics, cell biology and live imaging to investigate the effects of EDMD-linked lamin mutations and determine how those mutations affect the normal health and development of muscles.
Gruenbaum’s work is expected to uncover the underlying mechanisms at work in EDMD and potentially could lead to the identification of new drug targets and the development of new therapies to treat EDMD.
Funding for this MDA grant began Aug. 1, 2012.
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