Discoveries in the Seidman Lab gave way to a novel treatment for hypertrophic cardiomyopathy
Work described in this story was made possible in part by federal funding supported by taxpayers. At Harvard Medical School, the future of efforts like this — done in service to humanity — now hangs in the balance due to the government’s decision to terminate large numbers of federally funded grants and contracts across Harvard University.
People with hypertrophic cardiomyopathy (HCM) — often an inherited disease marked by abnormally thickened heart muscle — face a looming risk of heart failure, arrhythmia, and sudden cardiac arrest. Many experience no signs and don’t realize they have the condition, while others suffer progressively worse symptoms such as chest pain, shortness of breath, and palpitations. HCM can make exercise unsafe and is the leading cause of sudden cardiac death among young athletes, though such events are rare.
For many years, scientists had little understanding of what caused HCM, and treatment options — such as beta blockers, calcium channel blockers, and surgery to thin the heart muscle — didn’t stop disease progression, and too often left patients needing heart transplantation.
Then, starting with a landmark publication in Cell in 1990, Harvard Medical School researchers uncovered critical insights into the genetic and molecular underpinnings of the disease. Their federally supported research paved the way for the first FDA-approved precision treatment for HCM: mavacamten (Camzyos).
In this video, Christine (Kricket) Seidman, the HMS Thomas W. Smith Professor of Medicine at Brigham and Women’s Hospital and professor of genetics in the Blavatnik Institute at HMS; her husband Jonathan Seidman, the Henrietta B. and Frederick H. Bugher Foundation Professor of Genetics at HMS; and Robert McDowell, a biotechnology leader who shepherded this first-in-class medicine to clinical trials, share the story behind the collaboration that has improved the lives of patients with this most common genetic heart disease.