Congratulations to Carl de Boer from the School of Biomedical Engineering for receiving a $1.6 million award from the Chan Zuckerberg Initiative (CZI) for his project, Foundational technology for a gene regulatory atlas over human development. The project is in partnership with Jussi Taipale from the University of Cambridge.

CZI’s mission in science is to support the science and technology that will make it possible for scientists to cure, prevent, or manage all diseases by the end of this century. Understanding gene expression is an important component of achieving this mission. Most diseases, especially common complex inherited diseases, such as autoimmune and heart disease, result from changes in gene regulation. Currently, the major limitation of cracking the gene regulatory code is the limited data available to learn from. 

“With this grant we will be able to develop the data-generation technology needed to learn the code cells use to regulate gene expression. In particular, we will be able to make new synthetic DNA sequences, put them into stem cells, and measure what they do in high throughput,” comments Carl de Boer. 

The project will provide funding for the de Boer lab to build the experimental and computational foundations for a gene regulatory atlas, a set of computer models that predict how DNA sequence controls gene regulation across all human cell types and indicate how regulatory mutations cause disease. As the data increases in scale across many cell types, researchers will be able to predict how changes to the genome alter gene regulation. This will be impactful for complex disease genetics by helping to identify the mechanisms by which the disease-associated genetic changes alter the behaviour of cells and result in disease.

The results from the research have the potential to help identify individuals at risk of disease, design therapeutics to prevent or cure disease and enable a more precise control of when and where the gene therapies are activated. 

“Receiving this grant is exciting for us because it will enable us to pursue a research direction that we think will be absolutely critical to solving the gene regulatory code,” explains de Boer, “It is the kind of high-risk high-reward project that few funding agencies have the vision to fund.”