Emmi Helle

The etiology of congenital heart defects

Emmi Helle
HUS, Lasten ja nuorten sairaudet

The project by Emmi Helle, MD, MSc (Econ), studies structural congenital heart defects. Researchers are looking for the causes of these heart defects with complicated heredity by examining genes and environmental factors. In spring 2018, the group discovered a new ‘candidate gene’.

The encouraging results supporting the pathogenicity of the candidate gene motivate the group to continue the study. However, according to the researchers, it is likely that the majority of heart defects develop due to a combination of genetic and environmental factors.

Emmi Helle launched a research project in Finland after returning from her postdoc studies at Stanford University in the United States in 2017.

– We are currently concentrating on structural defects affecting the left side of the heart. These include hypoplastic left heart syndrome (HLHS), aortic stenosis, coarctation of the aorta, and the bicuspid aortic valve. The heredity of congenital heart defects is complicated.

Although variants in a few known genes are known to cause congenital heart defects alone, in the majority of cases it is likely that these defects develop due to a combination of genetic and environmental factors, Emmi Helle states.

Between 2014 and 2018, the research group collected a study cohort of approximately 200 Finnish patients. Gene variants causing heart defects are being sought by exome sequencing.

– We are studying disease mechanisms by using induced pluripotent stem cells (iPS) produced from patients’ skin cells. We differentiate the iPS cells into cardiomyocytes and endothelial cells, which are cells lining the blood vessels. The aim is to determine the contribution of individual gene variants to the onset of structural heart defects, Helle continues.

The Pediatric Academic track funding has played a significant role in the progress of Helle’s project. The research is done in collaboration with Academy of Finland Research Fellow Riikka Kivelä from the University of Helsinki. Kivelä’s group develops new methods to enable the modelling of diseases by means of stem cells. Researchers are particularly interested in co-culture cell models.

The other partners include Professor Timo Otonkoski’s laboratory at the University of Helsinki, Professor James Priest’s laboratory at the University of Stanford in California and the University of Washington Center for Mendelian Genomics in Seattle.

Contact details

Emmi Helle
Helsinki University Hospital, University of Helsinki

Links to studies