Chapel Hill - University of North Carolina

Stanley C. Froehner, Ph.D.
(RG)  Molecular interactions of dystrobrevin, 
a dystrophin-associated protein
$  65,000.00	7/1/99 - 6/30/00	Year 2
$  65,000.00	7/1/00 - 6/30/01	Year 3

Summary: Dystrobrevin is a protein associated with dystrophin, the product of the Duchenne muscular dystrophy gene. Researchers will study the function of dystrobrevin in normal skeletal muscle. It is hoped that learning more about the dystrophin complex will provide insight into why its absence has such dire consequences for muscle integrity.

H. Benjamin Peng, Ph.D.
(RG)  Tyrosine phosphatase and Rho in ACh receptor clustering
$  60,000.00	1/1/00 - 12/31/00	Year 3

Summary: The development of the neuromuscular junction involves the clustering of ACh receptors in muscle. The signaling mechanism in ACh receptor clustering will be examined in this study.

Robert Sealock, Ph.D.
(RG)  Neuromuscular junction defects in the 
a-syntrophin knockout mouse
$  66,216.00	1/1/00 - 12/31/00	Year 1
$  66,641.00	1/1/01 - 12/31/01	Year 2
$  68,848.00	1/1/02 - 12/31/02	Year 3

Summary: Data indicates that dystrophin-associated syntrophins can have major influences on the structure and biochemistry of the neuromuscular junction in skeletal muscle. Syntrophins are missing in Duchenne muscular dystrophy and their lack may contribute to the pathology of the disease. This project aims to understand exactly what derangements in muscle are caused by syntrophin lack.

William Snider, M.D.
(RG)  Regulation of motor neuron survival by BAX
$  63,553.00	7/1/99 - 6/30/00	Year 3

Summary: Researchers will test whether a molecule; BAX, which regulates motor neuron survival during development, can influence motor neuron survival in animal models of amyotrophic lateral sclerosis (ALS).

Charlotte - Carolinas Medical Center

Jeffrey Rosenfeld, Ph.D., M.D.
(SG)  Consensus conference on multi-drug therapy in the 
treatment of amyotrophic lateral sclerosis (ALS)
$  15,000.00	5/1/00 - 5/31/00	Year 1

Durham - Duke University

Andrea Amalfitano, D.O., Ph.D.
(RG)  A new animal model for the study of Duchenne muscular dystrophy (DMD)
$  80,000.00	1/1/00 - 12/31/00	Year 3

Summary: A new animal model to study the potential of gene therapy to cure existing muscle disease in animals is presented in this application.

Vann Bennett, M.D., Ph.D.
(RG)  Role of ankyrin-B in congenital myopathy and calcium homeostatsis
$  29,331.00	1/1/00 - 12/31/00	Year 1
$  44,515.00	1/1/01 - 12/31/01	Year 2
$  57,638.00	1/1/02 - 12/31/02	Year 3

Summary: Research goals are to evaluate mice with ankyrin-B deficiency for congenital myopathy and to learn about the role of ankyrin-B in assembly of proteins that regulate muscle contraction.

Michael Hauser, Ph.D.
(RG)  Analysis of the gene defect responsible for 
limb-girdle muscular dystrophy 1A (LGMD1A)
$  65,000.00	1/1/00 - 12/31/00	Year 1
$  65,000.00	1/1/01 - 12/31/01	Year 2

Summary: Researchers have found a gene whose protein is responsible for causing LGMD1A. They will study how the protein is changed in people who have the disease.

Daniel Kiehart, Ph.D.
(RG)  Nonsarcomeric myosin II, myogenesis and myotonic dystrophy (MMD)
$  51,913.00	1/1/00 - 12/31/00	Year 2
$  54,104.00	1/1/01 - 12/31/01	Year 3

Summary: Researchers will investigate the role of nonsarcomeric myosin in muscle development and its relationship to two forms of muscular dystrophy.

Margaret A. Pericak-Vance, Ph.D.
(PPG)  Identification of risk genes in sporadic and 
genetic amyotrophic lateral sclerosis (ALS)
$  200,000.00	1/1/00 - 12/31/00	Year 2
$  200,000.00	1/1/01 - 12/31/01	Year 3

Summary: The purpose of this grant is to identify genes causing ALS on chromosome 9 and X.

Marcy C. Speer, Ph.D.
(RG)  Mapping studies in neuromuscular disorders
$  90,000.00	7/1/99 - 6/30/00	Year 1
$  90,000.00	7/1/00 - 6/30/01	Year 2
$  90,000.00	7/1/01 - 6/30/02	Year 3

Summary: Researchers will identify genes that predispose to neuromuscular disease which will increase the accuracy of genetic counseling and may someday lead to rational therapies and prevention.

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