Enhancers - the bookmarks of the genome

The genome is like a unique book of instructions, continuously refined through evolution to give rise to the incredible diversity of life on Earth. While this "book" varies between species, it also varies among individuals within a species—a phenomenon known as genetic variation. This variation is at the heart of what makes each of us unique and underlies many complex traits and human disorders.

In our bodies, different cells "read" distinct "chapters" of the genome, enabling them to acquire specialized characteristics and functions. This remarkable cellular diversity is orchestrated by non-coding, gene-distal regulatory genomic elements called enhancers. Enhancers are essential because they control when and where genes are turned on, shaping the development and function of each cell type and contributing to the complexity of multicellular organisms.

Most genetic variants associated with complex traits and human disorders are found within these enhancers. At our lab, we investigate how enhancers transmit regulatory information to target genes and how genetic variations within enhancer sequences influence phenotypic diversity, including susceptibility to diseases.

Through cutting-edge genomic tools and approaches, we strive to uncover the principles that connect enhancer variants to complex phenotypes, including human disorders. Our research lies at the intersection of molecular biology, genomics, and computational biology.