Around 50% of babies with Down syndrome are born with congenital heart defects, the most severe of which require surgery in the first few months of life. These heart defects are a major cause of mortality and morbidity in newborns with Down syndrome. Victor and his lab are trying to understand the genetic causes of these heart defects. 

Down syndrome is caused by an extra copy of chromosome 21, which carries around 230 genes. In work published earlier this year, Victor's lab used mouse genetics to show that the heart defects are due to an extra copy of at least two genes on chromosome 21, and identified one of these genes as DYRK1A. 

Victor says:

This BHF grant will allow us to follow up on this study, aiming to identify the second gene that is required to cause the heart defects and then to discover how an extra copy of these genes causes heart defects. Huge credit for obtaining this grant goes to Eva Lana-Elola and Rifdat Aoidi, whose hard work led to the discovery of one of the causative genes and laid the foundations for this follow-on grant. The work will involve a collaboration with Dr Duncan Sparrow, University of Oxford.

Victor's lab will receive £657,000. 

Huge congratulations to Victor and his team!