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All the investigators participating in the Neuromuscular
Disease Project are located at Children's Hospital, Boston,
or at Massachusetts General Hospital. The Children's Hospital
is located in the Harvard Medical School-Longwood Avenue Complex
in Boston, while Massachusetts General Hospital in located
in Charlestown. In addition to these locations, the investigators
interact with outside institutions and collaborators
to bring in additional patients for the research project.
The Neuromuscular Disease Project is set within an active
research and clinical collaborative setting. The research
at Children's Hospital takes place in the Enders Building,
while the Fegan Building houses the clinical Genetics and
Neurology Programs. The research at Massachusetts General
Hospital takes place in the Cecil B. Day Laboratory for Neuromuscular
Research.
Investigators
The researchers have a long and productive history in working
with human neuromuscular diseases. The PIs have been responsible
for several notable breakthroughs in the field of genetics,
including the identification of the genes for Duchenne Muscular
Dystrophy, Limb Girdle Muscular Dystrophy, Miyoshi myopathy,
Nemaline myopathy, and amyotrophic lateral sclerosis, as well
as for the development and testing of myoblast transfer as a
potential therapeutic approach to neuromuscular disease.
The Director of the Neuromuscular Disease Project, Dr. Louis
Kunkel, holds a joint appointment with the Genetics Department
at Harvard Medical School. The principle investigators participating
in the Project have associated positions within the Departments
of Pediatrics, Neurology, and Genetics. All actively participate
in Genetics Department-related teaching activities. Listed
below are the Principle Investigators and Directors of the
Neuromuscular Disease Project, along with other researchers
who are working toward the common goals of the Project. To
view the research interests and scientific abstracts, publications,
and data sets of the researchers, please use the links below.
| Louis
M. Kunkel, PhD |
Publications
Current Lab Members & Projects
Past Lab Members & Current Trainees
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Professor of Genetics and Pediatrics
Program in Genomics
Expertise and Interest: Molecular basis of the muscular
dystrophies
Project 1: Gene expression and biochemical studies of
filamin/sarcoglycan-related dystrophies
Project Affiliates:
Jeff Guyon, PhD
Federica Montanaro, PhD
Isin Dalkilic, BA
Kaliopi Liadaki, PhD
Estanislao Bachrach, PhD
Peter Kang, MD
Vinay Prasad, MB, BS
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| Alan
H. Beggs, PhD |
Publications
Lab Members & Projects
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Associate Professor of Pediatrics
Program in Genomics
Expertise and Interest: Myofibular proteins and genetics
of congenital myopathic dystrophies
Project 3: Gene expression and biochemical analysis
of muscle development in Myotubular Myopathy
Project Affiliates:
Despina
Sanoudou, PhD
Umberto DeGirolami, MD
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| Emanuela
Gussoni, PhD |
Publications
Lab Members & Projects
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Assistant Professor of Pediatrics
Program in Genomics
Expertise and Interest: Cell based therapy of muscle
disease
Project 4: Gene expression in, and therapeutic application
of, muscle stem cells
Project Affiliates:
Kristina Muskiewicz, BS
Massimiliano Cerletti, PhD
Natasha Frank, MD
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| Elizabeth
C. Engle, MD |
Publications
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Associate Professor of Neurology
Program in Genomics
Expertise and Interest: Genetics of brainstem and extraocular
muscle development
Director of Core: Clinical Specimens and Data Core
Project Affiliates:
Jessica Blasko, MS
Travis Burleson, BS
Basil Darras, MD
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Issac
S. Kohane , MD, PhD
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Publications
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Associate Professor of Pediatrics
Endocrinology
Expertise and Interest: Medical applications of bioinformatics
Director of Core: Gene Expression and Bioinformatics
Core
Project Affiliates:
Atul Butte
Marco Bonnetti
Mei Han, PhD
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Some of the members of our research team attended
the
Xth
INTERNATIONAL CONGRESS ON NEUROMUSCULAR DISEASES
Vancouver, British Columbia July 2002
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