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Leinwand plans to use the grant from the Children’s Cardiomyopathy Foundation to study the differences in myosin mutations between adults and children. Myosin is a protein that makes the heart muscle contract. Many myosin mutations cause a disease called hypertrophic cardiomyopathy.
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Hypertrophic cardiomyopathy is the most common genetic heart disease and the leading cause of sudden death in young people. The heart muscle becomes thickened in parts of the body of people who have the disease, forcing the heart to work overtime to pump blood throughout the body.
Leinwand plans to prevent heart muscles from thickening in the first place, she said in a press statement. Young patients with the disease have about a 40 percent mortality rate if they don’t receive a heart transplant, Leinwand said. Between 1,000 and 5,000 new cases of the disease are diagnosed in children every year, she said.
“We would like to get beyond just treating the symptoms, and I believe we have the potential to treat the root cause of this disease,” Leinwand said.
Leinwand plans to use the grant money to look at the effects of a drug that has promise for treating heart failure in adults.
Leinwand is the chief scientific officer of the Biofrontiers Institute at CU-Boulder. The institute focuses on interdisciplinary collaboration. She also is a founder of MyoKardia Inc. in San Francisco, a company developing therapeutic drugs to treat genetic heart disesases. Third Rock Ventures LLC in Boston and San Francisco is funding the biomedical company with $38 million.
The nonprofit Children’s Cardiomyopathy Foundation in Tenafly, New Jersey, has committed more than $1.8 million to research and treatment of the disease since it started in 2002.