Breaking: Scientists Discover Hidden Genetic Causes Of Congenital Heart Disease

Scientists have discovered the hidden genetic causes of congenital heart disease, a feat of great interest to the global healthcare delivery sector.

The discovery is made by scientists at the Icahn School of Medicine at Mount Sinai in New York City, United States of America (USA), and collaborators with their discovery centring on the novel genetic interactions that may contribute to congenital heart disease, a common birth defect.

Details on their findings have been reported in the February 20 online issue of The American Journal of Human Genetics.

“Our research reveals the potential for digenic inheritance — where two genes work together to cause disease — expanding our understanding of the genetic underpinnings of congenital heart disease,” says co-corresponding senior author Yuval Itan, PhD, Associate Professor of Genetics and Genomic Sciences.

Itan is also a core member of The Charles Bronfman Institute for Personalised Medicine, and a member of The Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai.

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He co-supervised the study with Bruce Gelb, MD, Gogel Family Professor and Director of The Mindich Institute.

“By identifying these gene pairs and their combined effects, we uncover previously hidden genetic risks, which could improve diagnostic precision and open new avenues for personalised treatment strategies.”

According to a Science Daily report, congenital heart disease is the most common congenital anomaly, affecting millions worldwide, with more than half of CHD cases still lacking a molecular diagnosis.

The scientists however made a headway by analysing trio exome sequencing data from affected and unaffected children in the Pediatric Genomic Consortium (PCGC), where they identified 10 novel gene pairs potentially linked to the development of CHD.

“Our work demonstrates that genetic interactions, rather than single-gene causes alone, could play a significant role in congenital heart disease.

“By developing a method to uncover these interactions, we are broadening the scope of genetic research, which could lead to improved diagnosis, enhanced risk assessment, and more informed genetic counseling,” says first author Meltem Ece Kars, MD, PhD, a postdoctoral fellow in The Bronfman Institute.

“As clinical genetic testing advances, integrating digenic models could significantly improve diagnostic yield, offering patients and their families greater clarity about their condition and guiding the development of targeted therapies and interventions.”

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The report said the research team used a robust computational method to identify gene pairs that may act together to cause CHD, adding that the innovative approach could transform how genetic studies are conducted for complex diseases, providing deeper insights into the role of genetics in disease development, say the investigators.

“With the tools we’ve developed, our research provides a framework for future studies into genetic interactions that could affect a wide range of human diseases,” it also quotes Dr. Itan as saying.