Congenital heart defects are the most prevalent and severe among all birth defects. Each year, 1.35 million infants are born with CHDs worldwide, affecting 8.1 infants per 1,000 live births. A substantial number of affected infants die in infancy, and many who survive may require repeated surgeries and lengthy hospitalizations. There are currently few strategies for reducing the public health impact of CHDs.
Most CHDs are due to a complex relationship among genetic, epigenetic and maternal lifestyle factors. The majority of current studies have evaluated each genetic, epigenetic or lifestyle factor one at a time. Li’s research will investigate how these factors can jointly increase the disease risk. The study aims to address three challenges in CHD research: 1) the genetic heterogeneity of CHDs, known as “all happy families are alike; each unhappy family is unhappy in its own way”; 2) the functional effects of genetic factors within cardiac tissues, such as the association between genetic and epigenetic factors; and 3) the complex interactions among genetic, epigenetic and maternal lifestyle factors.
Li notes, “The findings will likely provide insights into the underlying pathophysiological and etiological processes that result in CHDs. Additionally, they may help us to identify perspective mothers at higher risk based on their genetic, epigenetic and lifestyle factors, providing new directions for more precise preconceptional counseling and interventions of congenital heart defects.”
Li will be mentored by a group of experts from across the United States, including Nianjun Liu, professor of epidemiology and biostatistics at the IU School of Public Health-Bloomington.