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May 26, 2017

New study highlights the importance of genetics research

By Suzanne Ferguson, @suzannerferguson

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An exciting paper was recently published in Nature Genetics titled “The complex genetics of hypoplastic left heart syndrome”.  This elegant study was led by a research team at the University of Pittsburgh School of Medicine and highlights the creation of the first mouse models of hypoplastic left heart syndrome (HLHS). Genetic analysis of these mice revealed mutations in two unique genes that, when combined, cause HLHS.

The genes impacted by mutations in the mouse model are SAP130 and PCHDA9. Recognition of the importance of these two genes in the mouse model led the team to look for mutations in 68 patients with HLHS. This revealed 1 out of 68 patients to have a mutation in both SAP130 and PCHDA9. While this is an intriguing finding, these results provide additional support for the complexity of the genetics of HLHS. (Check out this previous blog post on the subject.)

This paper is very exciting for the HLHS community. The more research teams we have focused on understanding the molecular basis of HLHS, the faster a cause and new therapies may be discovered. The study also highlights another very important aspect – the more people participating in research, the more teams are able to learn about the specific disease. For questions on how to participate in our HLHS program’s genetic research, email us at

Congratulations to the team at the University of Pittsburgh School of Medicine!

The Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome (HLHS) is a collaborative network of specialists bonded by the vision of delaying or preventing heart failure for individuals affected by congenital heart defects including HLHS. The specialized team is addressing the various aspects of these defects by using research and clinical strategies ranging from basic science to diagnostic imaging to regenerative therapies.


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