Deciphering congenital heart disease traits by exploring human genetic diversity
Human genetics of cardiac malformations
What are the causes for heart malformations, which are the most common birth defects in children? Why do specific heart malformations run in certain families while others occur at different frequencies in distinct populations?
Christoph Preuss’ interest is to understand the genetic architecture of congenital heart disease and the contribution of different functional variants at the individual, as well as at the population level. By applying recent genomic techniques, such as whole exome sequencing and genotyping, he aims at identifying the interplay of genetic variants that contribute to the disease in children.
Access to study populations in Quebec and a large cohort of families with multiple affected individuals will enable him to understand how rare disease-associated variants are transmitted within families and across the general population.
The long-range goal will be to decipher the genetic and molecular pathways in which these variants are involved, and to understand the potential impact of specific genetic backgrounds later in life. This will help develop better diagnostic strategies and therapeutic approaches for patients with congenital heart disease.