Research

The precise identification of genetic variants that predispose to human diseases is a fundamental scientific goal, paving the way to new diagnostics, treatments, and basic insights into human biology. So far, these efforts focused mainly on protein-coding sequences, and the identification of non-coding variants lags behind. Our research vision is to elucidate regulatory mechanisms, whereby non-coding variants influence the susceptibility to complex diseases by applying a combination of functional genomics, regulatory element analysis, human patient samples and mouse genetic engineering techniques.

We apply these techniques to identify functional variants and gene regulatory networks for a variety of complex disorders including idiopathic scoliosis, and vascular calcification pathologies. Idiopathic scoliosis is the most common musculoskeletal disorder of childhood, leading to sideways curvature of the spine. Vascular calcification pathologies involve the abnormal deposition of calcium phosphate crystals in the blood vessel walls, contributing to arterial stiffness and increased cardiovascular risk. The genetic architecture of these diseases is complex, and the great majority of risk factors are undiscovered.

Our goal is to discover novel regulatory mechanisms underlying complex diseases by identifying gene regulatory elements such as enhancers, which play an important role in fine-tuning gene expression and understanding how mutations in these enhancers can lead to human diseases. In addition, we aim to illuminate the genetic networks that the associated genes are involved in and dissect the molecular and cellular processes underlying disease pathogenesis.