Genetic study of heart defects and autism finds new causative genes

Researchers identified almost two dozen genes that contribute to heart defects by studying genetic data from people born with congenital heart disease or autism.

Multiple diseases that start early in life appear to be linked to mutations in the same genes.  For example, recent research looking at de novo mutations, new mutations that pop up in children that were not present in the parents, has demonstrated a connection between congenital heart defects and autism. However, sequencing de novo mutations are expensive, so small studies of individual diseases have limited power to identify genes that increase a person's risk of the disease.

In the new study, researchers developed an algorithm called M-DATA (Multi-trait De novo mutation Association Test with Annotations) that combines sequencing data from people with related conditions to identify genes contributing to disease. For example, they applied the new method to genetic data from people with congenital heart disease or autism. As a result, they successfully identified 23 genes for congenital heart disease, including 12 that were previously unknown.

The researchers conclude that M-DATA is more effective at identifying genes that increase a person's risk than analyses focusing on a single disease. In addition, instead of analysing a small number of genomes from affected individuals, M-DATA analyses a more significant number of combined genomes from multiple groups of people. As a result, the new method may help researchers identify previously unknown genes linked to disease and improve our understanding of the cause and potential treatment for different conditions.