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I have been interested
in muscle and heart disease since I was a graduate student at Albert Einstein
College of Medicine in the laboratory of Dr. Leslie Leinwand. As a graduate
student, I studied the genes encoding the major muscle protein, myosin. Much
of the work involved cloning and characterizing human myosin genes, but I
also developed a system in which to study protein interactions in the
subunits of myosin. I really enjoyed being a student in Leslie's lab. I spent
a good bit of my graduate school years collaborating with the laboratory of
Dr. James Spudich at Stanford University Medical Center where I became
interested in studying motor proteins using in vitro motility assays. While
at Einstein, I completed my M.D. and Ph.D. degrees as part of the Medical
Scientist Training Program. I also had the opportunity to spend time at
Marine Biological Laboratories as a teaching assistant in the Physiology
Course. Although the Bronx is a really lovely place (with great Italian
food), I admit that doing science on Cape Cod for several summers was a real
pleasure. My next stop was
Boston where I completed clinical training in Internal Medicine and
Cardiovascular Medicine at the Brigham and Women's Hospital at Harvard
Medical School. My post-doctoral research was with Dr. Louis Kunkel at
Children's Hospital in the Division of Genetics and the Howard Hughes Medical
Institute. While in Lou's lab, I gained training in human genetics, disease
gene mapping and mutation analysis. During that time, we studied the genes
encoding dystrophin-associated proteins and found these genes to be mutated
in patients with autosomally-inherited forms of muscular dystrophy. In 1996, I came to the
University of Chicago. In that time, we have established useful models human
cardiomyopathy and muscular dystrophy.
We have more recently developed interests in vascular spasm and their
role in cardiomyopathy progression.
We are also interested in the cell biology and genetics of plasma
membrane fusion and nuclear membrane structure and function since these
mechanisms are also important for cardiomyopathy and muscular dystrophy. I direct the Cardiovascular Genetics
clinic here at the University of Chicago where we provide clinical and
research information to patients and families with inherited forms of heart
disease. I also help patients with neuromuscular disease who have
accompanying cardiac disease. It is an exciting time to be a scientist since
we can now understand better the defects that underlie heart and muscle
disease. Contact: emcnally@uchicago.edu |
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