04 Aug Precision Genetics Can Identify Specific Causes of Heart Failure

MedicalResearch.com Interview with:

Dr. Seidman

Christine Seidman, MD
Thomas W. Smith Professor of Medicine and Genetics
Director, CV Genetics Center Brigham and Women’s Hospital
Harvard Medical School
Dept of Genetics
Boston, MA 02115 

MedicalResearch.com:  What is the background for this study?   

Response: Heart failure is a common and incurable disorder that is known to arise from many different underlying causes.  By exploiting a new technology, single nuclear transcriptional analyses, we aimed to define molecular profiles in human hearts tissues that were obtained from patients with different genetic and non-genetic causes of heart failure.

Our goal was to determine if there were distinctive signatures that could provide new opportunities to develop precise treatments, based on the specific cause of heart failure.

 MedicalResearch.com:  What are the main findings?

Response: Not surprisingly, we identified many differences between normal and failing human hearts, including substantially loss of cardiomyocytes, the cells that are responsible for cardiac contraction.  We also identified distinct profiles and the specific signals and molecules that define these profiles among hearts from patients with different causes of heart failure.  By using machine learning tools, we showed that the underlying cause of heart failure could be accurately assigned based solely on these molecular signatures. The demonstration that specific signals are activated by different etiologies for heart failure implies that targeting these signals provide therapeutic benefit.  To advance these studies we made all datasets fully available to the scientific community with the expectation that future analyses of these signals may improve and personalize treatments for heart failure.

Dr. Seidman reports consultancy fees from Maze, BridgeBio and Bristol Myers Squibb. Seidman is a member of the Board of Directors for Burroughs Wellcome Fund (U.S.) and Merck.

Citation:

Reichart, D et al. “Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies” Science 10.1126/science.abo1984

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Last Updated on August 4, 2022 by Marie Benz MD FAAD