Doris Duke Charitable Foundation

Elizabeth M. McNally, M.D., Ph.D.


Biography



Elizabeth McNally is a professor at the University of Chicago where she studies the genetics of inherited heart disease and inherited muscle disease. Dr. McNally was born in Chicago and received her undergraduate degree at Barnard College majoring in Philosophy and Biology. She received her M.D. and Ph.D. degrees participating in the Medical Scientist Training Program at Albert Einstein College of Medicine. Dr. McNally was clinically trained at the Brigham and Women’s Hospital in Internal Medicine and Cardiovascular Diseases. She was a fellow in Genetics at Children’s Hospital in Boston and the Howard Hughes Medical Institute.

Dr. McNally studies the genetic defects that lead to heart and muscle weakness. She directs the Cardiovascular Genetics Clinic at the University of Chicago that specializes in inherited cardiomyopathies, the cardiomyopathy that accompanies neuromuscular disease and other inherited cardiovascular disorders. The discovery of gene defects in patients and families with inherited heart disease helps identify those that are at higher risk of developing disease. Dr. McNally is now planning to study the epigenetic mechanisms that lead to cardiomyopathy and to combine genetic studies with imaging to identify the earliest markers of cardiomyopathy. These studies will also test whether early treatment can slow or prevent the onset of cardiomyopathy and heart failure. Dr. McNally was a Culpeper Medical Scholar and received a Clinical Translational Award from the Burroughs Wellcome Foundation. Dr. McNally is also supported by the National Institutes of Health. She is a member of the American Society for Clinical Investigation and the Association of American Physicians. Dr. McNally works closely with the Muscular Dystrophy Association serving on its Scientific Advisory Board. Dr. McNally is also dedicated to training physician scientists by directing the Cardiovascular Sciences Training Program at the University of Chicago.

Abstract

Epigenetics of Heart Failure

Cardiomyopathy, or weakness of the heart muscle, is a leading cause of congestive heart failure, one of the most common hospital diagnoses in the United States. Cardiomyopathy can be caused by mutations in single genes, where it can lead to heart failure and life-threatening irregular heart rhythms. Most of the genes that are associated with cardiomyopathy encode proteins that are specifically important for heart muscle function. One gene that is associated with cardiomyopathy encodes a protein of the nuclear membrane that is thought to have a role in regulating nuclear function such as the expression of genes. Dr. McNally will study patients with mutations in genes that cause cardiomyopathy to try to understand new mechanisms of heart failure. Dr. McNally will also work to identify how the nuclear membrane is important for the proper function of heart cells. Lastly, Dr. McNally will work with patients and families who are at risk of developing heart failure to identify new markers and determine therapy that can slow or halt the progression of cardiomyopathy.