Grant: CIHR Fellowship

Between 3 to 5% of births are affected by congenital malformations and 20 to 30% of infant deaths are due to genetic disorders. Understanding genetic traits associated with congenital disorders are critical for early diagnosis and improving treatments. Increasing evidence suggests that a large proportion of congenital disorders are linked to impaired regulation of gene expression. Over the years, studies have shown that transcription of a single gene or a cluster of genes is regulated by remote cis-regulatory elements. The remote cis-regulatory elements are brought in physical contact with the promoter of a given gene by chromatin looping. However, the underlying mechanism remains poorly understood. The aim of the proposed research is to improve the understanding of the mechanism controlling long distance gene regulation.