Elizabeth M McNally

  • 11943 Citations
1983 …2024
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Personal profile

Research Interests

As a physician and scientist, I am keenly interested in bringing the benefits of research discovery to the practice of medicine. I am a human geneticist and cardiologist. My clinical and research interests are in the genetics of cardiovascular and neuromuscular disorders.

We study genetic mechanisms responsible for inherited human diseases including heart failure, cardiomyopathy, muscular dystrophy, arrhythmias, aortic aneurysms. Working with individuals and families, we are defining the genetic mutations that cause these disorders. By establishing models for these disorders, we can now begin to develop and test new therapies, including genetic correction and gene editing.

I lead the Cardiovascular Genetics program at the Bluhm Cardiovascular Institute. This program provides integrated genetic assessment with clinical cardiovascular care to help better identify disease risk for cardiovascular disorders. We use genetic information for diagnosis and risk reduction to improve health across the lifespan.

Certifications and Licenses

Cardiovascular Disease

Training Experience

1992Residency, Brigham & Women's Hospital
1996Postdoctoral Fellowship, Children's Hospital, Boston
1996Fellowship, Brigham & Women's Hospital

Education/Academic qualification

PhD, Albert Einstein College of Medicine

… → 1990

MD, Albert Einstein College of Medicine

… → 1990

Research interests

  • Aortic Aneurysm
  • Arrhythmias
  • Genetics
  • Heart Failure
  • Muscular Dystrophy
  • Neuromuscular Disorders

Fingerprint Dive into the research topics where Elizabeth M McNally is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 13 Similar Profiles
Muscular Dystrophies Medicine & Life Sciences
Sarcoglycans Medicine & Life Sciences
Cardiomyopathies Medicine & Life Sciences
Muscles Medicine & Life Sciences
Dystrophin Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Skeletal Muscle Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Grants 2014 2024

Research Output 1983 2019

238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018

Bourke, J. P., Guglieri, M., Duboc, D., Aartsma-Rus, A., Bandali, A., Bennett, N., Cools, B., Cripe, L., de Groot, I., Dittrich, S., Florian, A., Furlong, P., Goemans, N., Hor, K., van Leperen, F., MacGowan, G., McNally, E. M., Pegoraro, E., Politano, L., Sediva, M. & 4 others, Stara, V., Timmermans, J., Vroom, E. & Wahbi, K., Jan 1 2019, In : Neuromuscular Disorders.

Research output: Contribution to journalArticle


At the heart of genetic disease: an interview with Elizabeth McNally

McNally, E. M., Sep 18 2019, In : Disease models & mechanisms. 13, 2

Research output: Contribution to journalArticle

Open Access
Inborn Genetic Diseases
Heart Diseases

Deletion of Sulfonylurea Receptor 2 in the Adult Myocardium Enhances Cardiac Glucose Uptake and Is Cardioprotective

Aubert, G., Barefield, D. Y., Demonbreun, A. R., Ramratnam, M., Fallon, K. S., Warner, J. L., Rossi, A. E., Hadhazy, M., Makielski, J. C. & McNally, E. M., Apr 1 2019, In : JACC: Basic to Translational Science. 4, 2, p. 251-268 18 p.

Research output: Contribution to journalArticle

Open Access
Sulfonylurea Receptors
Facilitative Glucose Transport Proteins
2 Citations (Scopus)

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes

Kim, E. Y., Barefield, D. Y., Vo, A. H., Gacita, A. M., Schuster, E. J., Wyatt, E. J., Davis, J. L., Dong, B., Sun, C., Page, P., Castillo, L. M., Demonbreun, A. R., Zhang, H. F. & McNally, E. M., Mar 21 2019, In : JCI Insight. 4, 6, 122686.

Research output: Contribution to journalArticle

Open Access
Myotonic Dystrophy
Cardiac Myocytes
Induced Pluripotent Stem Cells
Trinucleotide Repeat Expansion
1 Citation (Scopus)

Dusp6 is a genetic modifier of growth through enhanced ERK activity

Vo, A. H., Swaggart, K. A., Woo, A., Gao, Q. Q., Demonbreun, A. R., Fallon, K. S., Quattrocelli, M., Hadhazy, M., Page, P. G. T., Chen, Z., Eskin, A., Squire, K., Nelson, S. F. & McNally, E. M., Jan 15 2019, In : Human molecular genetics. 28, 2, p. 279-289 11 p.

Research output: Contribution to journalArticle

Dual Specificity Phosphatase 6
Extracellular Signal-Regulated MAP Kinases
Muscular Dystrophies