Elizabeth M McNally

  • 11668 Citations
1983 …2023
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Personal profile

Research Interests

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.

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.

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

Keywords

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

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  • 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

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Grants 2014 2023

Sarcoglycans
Muscular Diseases
Muscles
Membranes
Sarcolemma
Myofibrils
Cardiomyopathies
Cardiac Arrhythmias
Myosins
Carrier Proteins
Latent TGF-beta Binding Proteins
Duchenne Muscular Dystrophy
Transforming Growth Factor beta
Carrier Proteins
Steroids
Muscular Dystrophies
Cardiomyopathies
Sarcolemma
Sarcoglycans
Limb-Girdle Muscular Dystrophies

Research Output 1983 2019

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
Myocardium
Glucose
Facilitative Glucose Transport Proteins
Glycolysis

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
Growth
Myoblasts
1 Citation (Scopus)

Genetic Spectrum of Arrhythmogenic Cardiomyopathy

Gacita, A. M. & McNally, E. M., Mar 1 2019, In : Circulation. Heart failure. 12, 3, p. e005850

Research output: Contribution to journalEditorial

Open Access
Sarcomeres
Cardiomyopathies
Heart Failure
Phenotype
Mutation

Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy

Zelikovich, A. S., Quattrocelli, M., Salamone, I. M., Kuntz, N. L. & McNally, E. M., Dec 1 2019, In : Scientific Reports. 9, 1, 5770.

Research output: Contribution to journalArticle

Open Access
Inbred mdx Mouse
Muscular Dystrophies
Adiponectin
Duchenne Muscular Dystrophy
Muscles
1 Citation (Scopus)
Dystrophin
Duchenne Muscular Dystrophy
Netherlands
Biomarkers
Education