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DD/LGMD - Robert Bloch, Ph.D.

Robert Bloch (DD/LGMD): Pictured here with a colleague,
As part of their research, Bloch and colleagues will test shortened versions of the dysferlin protein for use in gene therapy for type 2B limb-girdle muscular dystrophy and Miyoshi myopathy. Photo credit: Dan Bloch (thirdworldsoda.com)
Limb-Girdle Muscular Dystrophy (LGMD)
Distal Muscular Dystrophy (DD)

MDA has awarded a research grant totaling $362,295 over a period of three years to Robert Bloch, a professor in the department of physiology at the University of Maryland School of Medicine in Baltimore. The funds will help support Bloch's study of the role of a protein called dysferlin in type 2B limb-girdle muscular dystrophy (LGMD2B) and Distal muscular dystrophy (DD, or Miyoshi myopathy).

"Limb-girdle muscular dystrophy 2B and Miyoshi myopathy are caused by mutations in the gene that carries instructions for dysferlin, but the role of dysferlin and its location in muscle cells are controversial," Bloch said.

Bloch and colleagues are working to answer these questions by studying isolated muscle fibers from normal and dysferlin-mutant mice, studying the structure and function of intact muscles from these same mice, and comparing what they observe in mouse muscle to muscles of people with LGMD2B or Miyoshi myopathy.

"The state of research in my area is in considerable flux, largely because of problems that have arisen from attempts to translate studies done in isolated cells to what occurs in muscle tissue in a living animal," Bloch said. "We have been trying to bridge this gap and have been getting results that we did not expect based on earlier work from other laboratories.

"It will take us some time to sort out the differences, but once we do so we anticipate making rapid progress."

Funding for this MDA grant began February 1, 2012.

‹ CMT - Garth Nicholson, M.D., Ph.D. up DMD - Andrew Ho, Ph.D. ›

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Grants at a Glance — Winter 2012

  • ALS - Brian Kraemer, Ph.D.
  • ALS - Claudio Hetz, Ph.D.
  • ALS - Eric Huang, M.D., Ph.D.
  • ALS - Kenneth Hensley, Ph.D.
  • ALS - Terry Heiman-Patterson, M.D.
  • Cell Therapy - Ilona Skerjanc, Ph.D.
  • CMD - Mahasweta Girgenrath, Ph.D.
  • CMD/LGMD - Jeffrey Miller, Ph.D.
  • CMT - Charles Abrams, M.D., Ph.D.
  • CMT - Garth Nicholson, M.D., Ph.D.
  • DD/LGMD - Robert Bloch, Ph.D.
  • DMD - Andrew Ho, Ph.D.
  • DMD - Kay Davies, M.A., Ph.D.
  • DMD - Lawrence Steinman, M.D.
  • DMD - Robert Korneluk, Ph.D.
  • DMD - Vladimir Ljubicic, Ph.D.
  • DMD/BMD - David Thomas, Ph.D.
  • DMD/BMD - James Ervasti, Ph.D.
  • DMD/BMD - Julie Saba, M.D.
  • DMD/BMD - Nadine Wiper-Bergeron, Ph.D.
  • DMD/BMD - Nick Menhart, Ph.D.
  • DMD/BMD - Pura Muñoz-Canoves, Ph.D.
  • FSHD - Charles Emerson, Ph.D.
  • FSHD - Scott Harper, Ph.D.
  • FSHD - Silvère van der Maarel, Ph.D.
  • IBM - Sanford Bernstein, Ph.D.
  • Mito. Myopathy - Salvatore DiMauro, M.D.
  • MG - Premkumar Christadoss, M.B.B.S.
  • MMD - Laura Ranum, Ph.D.
  • MMD - Mani Mahadevan, M.D.
  • Muscle Physiology - Chris Weihl, M.D., Ph.D.
  • Muscle Physiology - Elizabeth Chen, Ph.D.
  • Pompe - Celine Baligand, Ph.D.
  • Pompe - Darin Falk, Ph.D.
  • Pompe - Eric Sjoberg, Ph.D.
  • SMA - Christian Lorson, Ph.D.
  • SMA - Kentaro Sahashi, M.D., Ph.D.
  • SMA - Tomoyuki Awano, Ph.D.
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