Albany - Health Research, Inc.

Terence Wagenknecht, Ph.D.
(RG)  3D mapping of central core disease mutations of the ryanodine receptor
$  60,000.00	1/1/00 - 12/31/00	Year 2
$  60,000.00	1/1/01 - 12/31/01	Year 3

Summary: Specific regions of a large protein found in muscle, the ryanodine receptor, are defective in certain diseases. The locations of these regions will be determined by 3D electron microscopy.

Albany - Wadsworth Center

Daniel Rosen, Ph.D.
(RG)  Genetic analysis of hereditary distal myopathy
$  52,073.00	1/1/00 - 12/31/00	Year 3

Summary: Researchers have identified a family with many cases of muscle disease caused by a defective gene. Researchers wish to find the gene causing this muscle disease and study it.

Bronx - Albert Einstein College of Medicine

Charles Abrams, M.D., Ph.D.
(RG)  Connexin 32 mutations: The cellular and 
biophysical bases of X-linked Charcot-Marie-Tooth (CMTX)
$  35,000.00	1/1/00 - 12/31/00	Year 1
$  33,997.00	1/1/01 - 12/31/01	Year 2
$  34,860.00	1/1/02 - 12/31/02	Year 3

Summary: By studying the effects of mutations in connexin 32 gene, the experiments in this proposal will increase our understanding of why patients with these mutations develop peripheral neuropathy, CMTX.

Gary J. Bassell, Ph.D.
(RG)  Targeting cytoskeletal proteins to axons by mRNA localization
$  60,000.00	7/1/99 - 6/30/00	Year 2
$  60,000.00	7/1/00 - 6/30/01	Year 3

Summary: Neurotrophins promote the survival of motor neurons and are potential therapeutic agents for amyotrophic lateral sclerosis (ALS). This study is designed to identify a novel molecular mechanism for the transport and synthesis of cytoskeletal proteins to axons. Basic research aimed at identifying how neurotrophins influence axonal transport and cytoskeletal organization are relevant to the study of ALS.

Michael Lisanti, M.D., Ph.D.
(RG)  Caveolin-3 and limb-girdle muscular dystrophy (LGMD)
$  65,000.00	1/1/00 - 12/31/00	Year 1
$  65,000.00	1/1/01 - 12/31/01	Year 2
$  65,000.00	1/1/02 - 12/31/02	Year 3

Summary: LGMD is an inherited form of muscular dystrophy that is due to mutations within the caveolin-3 gene. Here, researchers propose to use a variety of innovative molecular and genetic approaches to discover the mechanisms by which these mutations in caveolin-3 cause muscular dystrophy.

Buffalo - State University of New York

Ning Chen, Ph.D.
(RF)  S. Mouchly Small MDA Research Fellowship
$  32,000.00	7/1/99 - 6/30/00	Year 2
$  32,000.00	7/1/00 - 6/30/01	Year 3

Joseph A. Granchelli, Ph.D.
(RG)  Treatment of inherited muscular dystrophy
$  51,300.00	7/1/99 - 6/30/00	Year 1
$  53,611.00	7/1/00 - 6/30/01	Year 2
$  56,041.00	7/1/01 - 6/30/02	Year 3

Summary: The mechanism of action of growth hormone, IGF-1, prednisone, tinset, and pentoxifylline will be investigated in order to facilitate the design of better therapies.

Georgirene Vladutiu, Ph.D.
(RG)  Improved diagnosis of carnitine palmityltransferase deficiencies (CPT II)
$  71,280.00	1/1/00 - 12/31/00	Year 1
$  68,930.00	1/1/01 - 12/31/01	Year 2
$  69,702.00	1/1/02 - 12/31/02	Year 3

Summary: The incidence of a common muscle disease, CPT II deficiency, will be determined in the general population and new causative mutations will be detected in the gene and their detrimental effect evaluated. The benefits will be elucidation of the disease, early detection and treatment.

New York - Columbia University

Salvatore DiMauro, M.D.
(RG)  Studies of human mitochondrial myopathies
$  66,000.00	7/1/99 - 6/30/00	Year 3

Summary: Mitochondria are the organelles that provide the cell with energy and they contain their own DNA. Researchers will study myopathies caused by either defects in nuclear DNA, mitochondrial DNA or in the communication between the two types of DNA.

Salvatore DiMauro, M.D.
(RG)  Molecular genetics of human glycogenoses
$  98,325.00	1/1/00 - 12/31/00	Year 1
$  94,500.00	1/1/01 - 12/31/01	Year 2
$  95,842.00	1/1/02 - 12/31/02	Year 3

Summary: Glycogenoses are hereditary diseases in which sugar utilization in muscle is impaired causing pain, cramps and acute breakdown of the muscle fibers. Researchers are defining the genetic defects in these disorders to facilitate prenatal and family counseling. Researchers are also studying cattle with one of these enzyme defects.

Michio Hirano, M.D.
(RG)  Molecular pathogenesis and treatment of MNGIE
$  40,000.00	1/1/00 - 12/31/00	Year 1
$  40,000.00	1/1/01 - 12/31/01	Year 2
$  40,000.00	1/1/02 - 12/31/02	Year 3

Summary: MNGIE is a devastating neuromuscular disorder affecting the gastrointestinal tract, eye muscles and limbs. Researchers propose to study the disease and to test therapies using patient samples and a mouse model.

Francesco Pallotti, M.D., Ph.D.
(DG)  RNA-based gene therapy for mitochondrial myopathies
$  35,000.00	7/1/99 - 6/30/00	Year 1
$  35,000.00	7/1/00 - 6/30/01	Year 2

Summary: Researchers will develop methods to import RNA molecules into mitochondria, with the goal of using this novel technology to treat myopathies associated with mutations in mitochondrial transfer RNAs.

Virginia Papaioannou, Ph.D.
(RG)  Tbx6 and muscle stem cells
$  52,597.00	1/1/00 - 12/31/00	Year 1
$  49,280.00	1/1/01 - 12/31/01	Year 2
$  51,094.00	1/1/02 - 12/31/02	Year 3

Summary: Tbx6 is a new gene that appears to control muscle stem cell differentiation. Researchers will study its role to improve control of stem cells for future therapeutic uses in muscular dystrophy.

Serge Przedborski, M.D., Ph.D.
(RG)  Programmed cell death as a target for new 
amyotrophic lateral sclerosis (ALS) therapeutic studies
$  59,776.00	7/1/99 - 6/30/00	Year 1
$  65,651.00	7/1/00 - 6/30/01	Year 2
$  59,745.00	7/1/01 - 6/30/02	Year 3

Summary: To study the role of PCD in SOD1 mutation-induced neurodegeneration as it may relate to the cause of ALS and to the development of new treatments for ALS.

Eric Schon, Ph.D.
(RG)  Mitochondrial diseases:  Cellular models and gene therapy
$  57,565.00	7/1/99 - 6/30/00	Year 3

Summary: Researchers will attempt to create the first animal models of neuromuscular diseases associated with mutations in mitochondrial DNA, such as MELAS and Leigh syndrome.

Carol Troy, M.D., Ph.D.
(RG)  Role of free radicals in motor neuron degeneration
$  96,664.00	1/1/00 - 12/31/00	Year 1
$  99,678.00	1/1/01 - 12/31/01	Year 2
$  102,786.00	1/1/02 - 12/31/02	Year 3

Summary: The aim of this project is to determine how free radicals and oxidative stress produce neuronal degeneration.

Howard Worman, M.D.
(RG)  Functions of the Emery-Dreifuss muscular dystrophy (EDMD) protein
$  60,762.00	1/1/00 - 12/31/00	Year 3

Summary: EDMD is caused by abnormalities of the protein emerin. Researchers will examine emerin's functions and how abnormalities cause disease.

New York - Mount Sinai School of Medicine

David A. Sassoon, Ph.D.
(RG)  NFKB regulation by a novel skeletal 
muscle transduction molecule
$  60,000.00	7/1/99 - 6/30/00	Year 2
$  60,000.00	7/1/00 - 6/30/01	Year 3

Summary: This study will examine the role of a muscle gene, PW1, that mediates cellular responses to the cytokine, TNF. TNF is the key regulator of muscle wasting or cell death.

Marius Sudol, Ph.D.
(RG)  Function of the WW domain of dystrophin
$  50,000.00	7/1/99 - 6/30/00	Year 2
$  50,000.00	7/1/00 - 6/30/01	Year 3

Summary: Researchers uncovered a new signaling domain, a vertable biological 'velcro' that is present in human dystrophin. This has elucidated the function of dystrophin the protein that is mutated in Duchenne and Becker muscular dystrophies.

New York - New York University

Frank Martiniuk, Ph.D.
(RG)  Enzyme replacement therapy for acid maltase deficiency (AMD)
$  56,160.00	1/1/00 - 12/31/00	Year 1
$  57,845.00	1/1/01 - 12/31/01	Year 2
$  59,580.00	1/1/02 - 12/31/02	Year 3

Summary: Researchers plan to study the efficacy of enzyme replacement therapy as a means of treatment of AMD in animal models before attempting in human trials.

(RG)  Gene therapy for acid maltase deficiency (AMD)
$  31,873.00	7/1/99 - 6/30/00	Year 2

Summary: Researchers plan to study the efficacy of gene replacement therapy as a means of treatment of AMD in animal models.

New York - Rockefeller University

Raymond B. Birge, Ph.D.
(RG)  Identification of a novel neurotrophin signaling 
pathway: Implications for amyotrophic lateral sclerosis (ALS)
$  50,000.00	7/1/99 - 6/30/00	Year 2
$  50,000.00	7/1/00 - 6/30/01	Year 3

Summary: Molecules that can potentiate the survival of motor neurons will have therapeutic benefit for ALS. This project is designed to investigate a novel mechanism for neuronal survival to enhance the utility of neurotrophin therapy in patients.

New York - Sloan-Kettering Institute for Cancer Research

Mary Baylies, Ph.D.
(RG)  Identification of novel genes required for 
muscle differentiation
$  62,120.00	1/1/00 - 12/31/00	Year 2
$  63,521.00	1/1/01 - 12/31/01	Year 3

Summary: A molecular genetics study in flies will be conducted to uncover and characterize new gene(s) that, when mutated, lead to defects in muscle development similar to human dystrophies and myopathies.

Suzanne Li, M.D., Ph.D.
(RG)  The role of thymocyte winged helix in the 
formation of the motor circuit
$  55,000.00	1/1/00 - 12/31/00	Year 3

Summary: Researchers have found that a gene, TWH, is required for normal motor strength and normal motor neuron development. This gene may play a key role in establishing the normal pattern of connections on a specific motor circuit. These connections are essential for normal motor behavior.

Rochester - University of Rochester

Denise Figlewicz, Ph.D.
(RG)  Cell-cycle gene activation in a primary culture model 
of amyotrophic lateral sclerosis (ALS)
$  75,000.00	7/1/99 - 6/30/00	Year 3

Summary: Researchers will determine if death in motor neurons that express mutant SOD-1 is due to an attempt by these non-dividing cells to re-enter the cell division pathway.

(RG)  Molecular studies of facioscapulohumeral dystrophy (FSHD)
$  50,000.00	7/1/99 - 6/30/00	Year 1

Summary: Researchers will aim to identify and characterize genes which appear to be involved in the pathogenesis of FSHD.

Robert C. Griggs, M.D.
(RG)  Molecular characterization of late-onset distal myopathy
$  55,237.00	1/1/00 - 12/31/00	Year 2
$  56,809.00	1/1/01 - 12/31/01	Year 3

Summary: The location of a gene causing a late-onset distal muscular dystrophy has been found and a candidate gene has been determined. Abnormalities of this candidate gene and its protein product will be studied and the clinical findings of distal muscular dystrophy patients correlated with the abnormalities.

Ami Mankodi, M.D.
(DG)  Pathogenesis of myotonic dystrophy (MMD)
$  35,000.00	4/1/99 - 3/31/00	Year 2

Summary: The goal of this project is to better understand the disease mechanism of MMD.

Rabi Tawil, M.D.
(RG)  4q35 deletions in facioscapulohumeral muscular dystrophy 
(FSHD): Implications for diagnosis and severity of disease
$  55,000.00	7/1/99 - 6/30/00	Year 3

Summary: Researchers will study the characteristics of the DNA deletion in a large number of families with FSHD. This is essential to establish an accurate DNA diagnostic test for FSHD.

(RG)  Inclusion body myositis (IBM): Phase II study of b-interferon-1a
$  60,643.00	1/1/00 - 12/31/00	Year 2

Summary: The purpose of this study is to conduct a pilot trial of b-interferon-1a (AVONEX; BIOGEN) in the treatment of patients with IBM to see if it is tolerated by the patients and to determine if a larger trial of effectiveness should be carried out.

Charles Thornton, M.D.
(RG)  Pathophysiology of myotonic dystrophy (MMD)
$  75,763.00	1/1/00 - 12/31/00	Year 3

Summary: The goal of this project is to determine why muscle wasting occurs in people with MMD.

(RG)  A trial of DHEAS in myotonic dystrophy (MMD)
$  40,000.00	7/1/99 - 6/30/00	Year 2

Summary: This study is a therapeutic trial of the drug dehydroepiandrosterone (DHEAs) sulfate in patients with MMD.

Stony Brook - State University of New York

Joav Prives, Ph.D.
(RG)  Regulation of surface expression of muscle 
acetylcholine receptors
$  53,915.00	7/1/99 - 6/30/00	Year 3

Summary: Researchers will study molecular mechanisms that control folding, assembly and surface distribution of acetylcholine receptors in muscle cells. Characterization of these mechanisms will increase understanding of the etiology of neuromuscular diseases.

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