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Event Detail (Archived)

Mutations, Mechanisms, and New Medicines for Cardiomyopathies

The Maclyn McCarty Memorial Lecture

  • This event already took place in January 2020
  • Caspary Auditorium

Event Details

Type
Friday Lecture Series
Speaker(s)
Christine Seidman, M.D., Thomas W. Smith Professor of Medicine and Genetics, Harvard Medical School; director, Cardiovascular Genetics Center, Brigham and Women's Hospital; investigator, Howard Hughes Medical Institute
Speaker bio(s)

Over the past 25 years molecular genetic studies have discovered hundreds of mutations that cause dilated (DCM) or hypertrophic (HCM) cardiomyopathy. While initially these studies were thought to be only relevant to familial cases, broad-based sequence analyses have demonstrated a significant prevalence of cardiomyopathy mutations in sarcomere protein genes among many patients with, or at risk for, heart failure. As such, the elucidation of molecular etiologies has enabled accurate gene-based diagnosis and predictive information.

The ultimate opportunity posed by discovery of the genetic basis for human disease is that these insights enable strategies to attenuate disease onset and progression and adverse outcomes. To accelerate these successes, the Seidman Lab’s research has addressed the mechanisms by which sarcomere gene mutations cause cardiomyopathy. Using induced-pluripotent stem cells and experimental animals this lecture will discuss analyses of two prominent cardiomyopathy genes: TTN (encoding titin), which harbors DCM mutations and MYH7, encoding b-cardiac myosin heavy chain, which harbors HCM mutations. Analyses of TTN mutations led to new understandings about how this massive protein enables cardiomyocytes to maintain sarcomere resiliency that allows the heart to adapt to stress. Analyses of MYH7 mutations uncovered new insights into the mechanisms of cardiac relaxation that provides energy conservation. These studies also defined unexpected therapeutic targets that have been successfully translated into new medicines to treat HCM, heralding the advent of precision medicine in cardiomyopathy.

Dr. Seidman was an undergraduate at Harvard College and received a M.D. from George Washington University School of Medicine. She served as an intern and resident in Internal Medicine at John Hopkins Hospital and received subspecialty training in cardiology at the Massachusetts General Hospital.

Dr. Seidman has pioneered the discovery of the genetic basis for heart muscle disorders, including hypertrophic and dilated cardiomyopathies and congenital heart disease. By engineering human mutations into iPSC-derived cardiomyocytes and mouse models she has identified molecular mechanisms and therapeutic targets. Her work has enabled the development of clinical gene-based diagnostics, early and accurate identification of at-risk individuals, and pre-emptive interventions to limit the progression and devastating outcomes associated with these disorders.

Dr. Seidman is the recipient of the American Heart Association Basic Science Prize and Joseph A. Vita Award, the American Society for Clinical Investigation Award, the Pasarow Foundation Award in Cardiovascular Research, the Bristol-Myers Squibb Award for Distinguished Achievement in Cardiovascular Research, the Institut de France Fondation Lefoulon-Delalande Grand Prix for Science Award and the European Society of Cardiology Gold Medal. She is a member of the U.S. National Academy of Medicine and the National Academy of Science.

Open to
Public
Host
Paul Cohen
Reception
Refreshments, 3:15 p.m. - 3:45 p.m., Abby Lounge
Contact
Justin Sloboda
Phone
(212) 327-7785
Sponsor
Justin Sloboda
(212) 327-7785
jsloboda@rockefeller.edu
Readings
https://librarynews.rockefeller.edu/index.php/2019/12/24/recommended-readings-christine-seidman-m-d-friday-january-10-2020/







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