Grants per year
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
1992 | Residency, Brigham & Women's Hospital |
1996 | Postdoctoral Fellowship, Children's Hospital, Boston |
1996 | Fellowship, Brigham & Women's Hospital |
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
PhD, Microbiology and Immunology, Albert Einstein College of Medicine
… → 1990
MD, Medicine, Albert Einstein College of Medicine
… → 1990
Research interests keywords
- Aortic Aneurysm
- Arrhythmias
- Genetics
- Heart Failure
- Muscular Dystrophy
- Neuromuscular Disorders
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
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Mechanisms of resealing and rebuilding in muscle repair
McNally, E. M. & Demonbreun, A. R.
National Institute of Neurological Disorders and Stroke
8/3/23 → 4/30/28
Project: Research project
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Understanding and Improving Therapies for the Muscular Dystrophies
University of Florida, National Institute of Arthritis and Musculoskeletal and Skin Diseases
8/1/23 → 7/31/24
Project: Research project
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Mechanisms linking the frail sarcomere to noncompaction cardiomyopathy
National Heart, Lung, and Blood Institute
8/1/23 → 7/31/25
Project: Research project
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Extracellular matrix regulation of cellular crosstalk in cardiac fibrosis
Demonbreun, A. R., McNally, E. M. & Fullenkamp, D. E.
National Heart, Lung, and Blood Institute
4/1/23 → 3/31/27
Project: Research project
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Effects of Glucocorticoids in Murine Models of Duchenne and Limb-Girdle Muscular Dystrophy
Wintzinger, M., Miz, K., York, A., Demonbreun, A. R., Molkentin, J. D., McNally, E. M. & Quattrocelli, M., 2023, Methods in Molecular Biology. Humana Press Inc., p. 467-478 12 p. (Methods in Molecular Biology; vol. 2587).Research output: Chapter in Book/Report/Conference proceeding › Chapter
1 Scopus citations -
Imaging and Serum Biomarkers for Cardiomyopathy in Duchenne Muscular Dystrophy
McNally, E. M., Chhabria, K. R. & Fullenkamp, D. E., Aug 1 2023, In: Circulation: Heart Failure. 16, 8, p. E010700Research output: Contribution to journal › Editorial › peer-review
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Longitudinal trajectories of branched chain amino acids through young adulthood and diabetes in later life
Sawicki, K. T., Ning, H., Allen, N. B., Carnethon, M. R., Wallia, A., Otvos, J. D., Ben-Sahra, I., McNally, E. M., Snell-Bergeon, J. K. & Wilkins, J. T., 2023, In: JCI Insight. 8, 8, e166956.Research output: Contribution to journal › Article › peer-review
Open Access -
Opposing effects of genetic variation in MTCH2 for obesity versus heart failure
Fischer, J. A., Monroe, T. O., Pesce, L. L., Sawicki, K. T., Quattrocelli, M., Bauer, R., Kearns, S. D., Wolf, M. J., Puckelwartz, M. J. & McNally, E. M., Jan 1 2023, In: Human molecular genetics. 32, 1, p. 15-29 15 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Removing uncertainty from variants of unknown significance
McNally, E. M., Jun 15 2023, In: Journal of Clinical Investigation. 133, 12, e171497.Research output: Contribution to journal › Editorial › peer-review
Open Access
Datasets
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Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease
Kim, E. Y. (Creator), Page, P. (Creator), Castillo, L. M. (Creator), McNally, E. M. (Creator), Wyatt, E. J. (Creator) & McNally, E. (Creator), figshare, 2016
DOI: 10.6084/m9.figshare.c.3626942.v1, https://figshare.com/collections/Direct_reprogramming_of_urine-derived_cells_with_inducible_MyoD_for_modeling_human_muscle_disease/3626942/1
Dataset
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GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice
Lenhart, K. C. (Creator), O'Neill, T. J. (Contributor), Cheng, Z. (Contributor), Dee, R. (Creator), Demonbreun, A. R. (Creator), Li, J. (Contributor), Xiao, X. (Creator), McNally, E. M. (Creator), Mack, C. P. (Creator), Taylor, J. M. (Creator) & Mack, C. (Creator), figshare, 2015
DOI: 10.6084/m9.figshare.c.3606407.v1, https://figshare.com/collections/GRAF1_deficiency_blunts_sarcolemmal_injury_repair_and_exacerbates_cardiac_and_skeletal_muscle_pathology_in_dystrophin-deficient_mice/3606407/1
Dataset
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Waters Demonbreun MDX MRI Manuscript Data Package
Waters, E. A. (Creator), Haney, C. R. (Contributor), Vaught, L. (Contributor), McNally, E. M. (Contributor) & Demonbreun, A. (Contributor), Prism. Galter Health Sciences Library. Northwestern University, May 23 2023
DOI: 10.18131/x17wx-02s47, https://prism.northwestern.edu/doi/10.18131/x17wx-02s47
Dataset