Emerging focus areas

As the Broad enters its second decade, our researchers are seeking to build on our foundation and use our approach to help advance emerging scientific directions. Theses include:

Variant-to-function

Human genetics studies have led to the identification of more than 200,000 robust genetic associations with common diseases. However, scientists still do not have the tools and methods they need to systematically map these associations to specific genes and then onto their functions—and generate therapeutic hypotheses to design new medicines. This is a major bottleneck for the development of new therapies for common diseases such as Type 2 diabetes. Learn more here.

Spatial transcriptomics

All cells have the same set of genes—what determines their type and how they act depends on which genes they express. Cells also don’t act alone—in order to truly understand what might be happening in health and disease, we need to understand cells in the context of tissue. To achieve this, Broad scientists have pioneered an important new innovation called spatial transcriptomics that gives scientists the ability to map gene activity within tissues. By revealing which cells are expressing which specific genes, spatial transcriptomics gives us insights into the role specific cells play in tissues. This has enormous potential to impact our understanding of developmental biology, disease biology, and a new approach to diagnostics and treatment. Learn more here.

Neurodegenerative Diseases

As the world’s population ages, neurodegenerative disorders such as Alzheimer’s disease and Parkinson’s disease are becoming increasingly prevalent. Despite the enormous investment into this field, major therapeutic breakthroughs have been sparse. With increasing evidence that these disorders share common genetic risk factors and biological mechanisms, the Broad is seeking to help advance the search for new treatments by generating new foundational datasets, creating better models of the human brain, and leveraging new technologies such as cutting-edge gene-editing tools to explore both biological mechanisms and possible therapeutic targets. Learn more here.

Machine Learning

The Broad has long been at the forefront of applying advanced mathematical and computational approaches to answer biology’s most confounding questions. We are home to many efforts to bring machine learning to bear on health and medicine, including the Eric and Wendy Schmidt Center—which seeks to understand the ‘programs of life’—by creating a new field and a community at the interface of machine learning and biology. The convergence of these two fields, as well as advances in cellular imaging and other technologies, promises to yield a deeper understanding of biological processes at a scale and speed that is unprecedented. Learn more here.