Preventing and decreasing the impact of chronic health disease
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This research involves treating cells grown from tissue from people with a variant in a gene called MYH6 to develop medical care to prevent/decrease congenital heart disease's impact on patients' lives. People who have variations in the MYH6 gene have a loss of function in the muscle cells of their heart. These gene variations are often found in people with severe congenital heart defects who require significant heart surgery and/or heart transplant to live. In families with the MYH6 gene variant, one person may have hyperplastic left heart syndrome while others have normal hearts. The heart of a person with hyperplastic left heart syndrome has just one ventricle instead of two, leading to a lifetime of cardiac care.
The proposed model holds the promise of providing the information needed to develop treatments to prevent or lessen the impact of hyperplastic left heart syndrome, other subtypes of chronic heart disease, and other related cardiac diseases such as cardiomyopathies. The most successful application of this research would be during pregnancy. It would provide the opportunity to correct genetic misinformation during the development of a fetus, thus allowing for normal development of the heart. The outcomes of this project could also improve clinical outcomes for patients born with hyperplastic left heart syndrome or chronic heart disease and other related cardiac diseases such as cardiomyopathies.
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