
Hope Through Research
At MDA, we take a big picture perspective across the full spectrum of neuromuscular diseases to uncover scientific and medical breakthroughs that accelerate treatments and cures. The power in our research approach is that we can often apply learnings from one disease to progress in others to bring urgently-needed answers to our families.
Grants at a Glance - Summer 2013
-
CCD — Kurt Beam, Ph.D.
Grant Announced: Summer 2013Disease Type: Endocrine Myopathies“Beam uses electrical equipment to measure currents, and a confocal microscope to measure calcium inside cells.”
-
DMD — Carmen Bertoni, Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“Carmen Bertoni, Ph.D., focuses on studying gene-editing strategies for DMD.”
-
FSHD — Gregory Block, Ph.D.
Grant Announced: Summer 2013Disease Type: Facioscapulohumeral Muscular Dystrophy (FSH, FSHD)“Cells taken from an FSHD patient were coaxed to become early-stage muscle fibers called myotubes. The cells are labeled ...”
-
MMD — Thomas Cooper, M.D.
Grant Announced: Summer 2013Disease Type: Myotonic Dystrophy (DM)“Mutant accumulated RNA (green) located within nuclei (blue) of heart tissue of a mouse model for type 1 myotonic dystrop...”
-
SBMA/ALS — Constanza Cortes, Ph.D.
Grant Announced: Summer 2013Disease Type: Spinal-Bulbar Muscular Atrophy (SBMA)“Constanza Cortes will study regulators of a cell recycling system that is disrupted in SBMA and ALS.”
-
DMD — Rachelle Crosbie-Watson, Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“Rachelle Crosbie-Watson will test the feasibility of using gene transfer therapy to deliver the gene for the sarcospan p...”
-
CCD — Robert Dirksen, Ph.D.
Grant Announced: Summer 2013Disease Type: Endocrine Myopathies“Working in a mouse model, Robert Dirksen will test whether altering calcium flow in muscles may be therapeutic for CCD.”
-
Mito. Myopathy — Marilena D’Aurelio, Ph.D.
Grant Announced: Summer 2013Disease Type: Mitochondrial Myopathies (MM)“Marilena D’Aurelio is studying strategies to overcome energy deficits in mitochondrial myopathies.”
-
DMD — Charles Gersbach, Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“In this illustration, an enzyme (blue) “edits” the double-helical DNA. ”
-
CMT — Peter Hiesinger, Ph.D.
Grant Announced: Summer 2013Disease Type: Charcot-Marie-Tooth Disease (CMT)“Partial loss of function of the rab7 protein causes slow adult-onset degeneration of individual fly photoreceptor cells,...”
-
LGMD/Miyoshi Myopathy — Jyoti Jaiswal, Ph.D.
Grant Announced: Summer 2013Disease Type: Limb-Girdle Muscular Dystrophy (LGMD)“A muscle fiber from a healthy and a dysferlinopathic mouse. A localized injury (site marked by the arrow) causes green d...”
-
MMD — Nicholas Johnson, M.D.
Grant Announced: Summer 2013Disease Type: Myotonic Dystrophy (DM)“Collecting clinical data for children with congenital myotonic muscular dystrophy will set the stage for clinical trials...”
-
CMT — Kleopas Kleopa, M.D.
Grant Announced: Summer 2013Disease Type: Charcot-Marie-Tooth Disease (CMT)“Viral delivery of the connexin 32 gene allows increased protein production (arrows) in the myelin sheath.”
-
SBMA — Albert La Spada, M.D., Ph.D.
Grant Announced: Summer 2013Disease Type: Spinal-Bulbar Muscular Atrophy (SBMA)“Muscles atrophy in SBMA and are a target for treatments that ultimately rescue motor neurons. ”
-
DMD/BMD — Lynn Megeney, Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“Lynn Megeney will investigate the role of caspase 3 in controlling regeneration of muscle cells. ”
-
DMD — Douglas Millay, Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“Muscle cells exhibit an increased fusion capability after overexpression of myomaker. The muscle protein myosin is in re...”
-
SMA — Umrao Monani, Ph.D.
Grant Announced: Summer 2013Disease Type: Spinal Muscular Atrophy (SMA)“In this microscopic view of three different neuromuscular synapses, clusters of receptors have fragmented, one of the fi...”
-
DMD — Moon-Chang Choi, Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“Choi will characterize a regulator of muscle regeneration, important in repairing muscle tissue damaged in muscular dyst...”
-
SMA — Bennett Novitch, Ph.D.
Grant Announced: Summer 2013Disease Type: Spinal Muscular Atrophy (SMA)“Bennett Novitch is working to generate a better understanding of the development and health of muscle-controlling nerve ...”
-
MMD — Michael Pape, Ph.D.
Grant Announced: Summer 2013Disease Type: Myotonic Dystrophy (DM)“The underlying cause of MMD is a gene expansion, which causes a cell molecule called RNA (a chemical cousin of DNA) to a...”
-
DMD/BMD — Terence Partridge, Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“Partridge will investigate differences in muscle repair programs between mice and humans to better understand what lesso...”
-
OPMD — Grace Pavlath, Ph.D.
Grant Announced: Summer 2013Disease Type: Oculopharyngeal Muscular Dystrophy (OPMD)“Grace Pavlath, Ph.D.”
-
Morayma Reyes, M.D., Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)
-
ALS — James Shorter, Ph.D.
Grant Announced: Summer 2013Disease Type: Amyotrophic Lateral Sclerosis (ALS)“James Shorter is investigating proteins that can break up aggregates of other proteins in ALS.”
-
DMD — Hansell Stedman, M.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“Hansell Stedman, M.D.”
-
CMT — Charlotte Sumner, M.D.
Grant Announced: Summer 2013Disease Type: Charcot-Marie-Tooth Disease (CMT)“A mutation in the calcium channel TRPV4 causes CMT in humans and affects wing development in a fly model of the disease.”
-
MMD — Maurice Swanson, Ph.D.
Grant Announced: Summer 2013Disease Type: Myotonic Dystrophy (DM)“Maurice Swanson, Ph.D.”
-
Muscular Dystrophies — Lee Sweeney, Ph.D.
Grant Announced: Summer 2013Disease Type: Myotonic Dystrophy (DM)“Treated muscle fibers (right) have a more normal looking appearance than untreated muscle fibers (left), which show scar...”
-
CCD — Julio Vergara, Ph.D.
Grant Announced: Summer 2013Disease Type: Endocrine Myopathies“Julio Vergara will use a combination of electrophysiology and optical microscopy to study defects in the calcium regulat...”
-
DMD — Zejing Wang, M.D., Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“A canine technician performs daily care for Sami, a DMD-affected dog currently receiving AAV-mediated gene therapy.”
-
DMD — Steve Wilton, Ph.D.
Grant Announced: Summer 2013Disease Type: Duchenne Muscular Dystrophy (DMD)“Steve Wilton is developing new exon-skipping compounds for the rarer DMD-causing mutations. ”