New technologies for reading and editing DNA and RNA provide vast amounts of data and reveal transformative insights. At the Broad Institute, scientists generate a whole human genome’s worth of genetic data every few minutes, read gene expression patterns in tissues and in millions of single cells, and use gene editing to create disease models and dissect cell circuitry. Learn more about #HowWeScience.
Connecting variants to function
Discovering how thousands of tiny genetic alterations lead to disease
Over the last decade, researchers have identified tens of thousands of tiny DNA alterations, called genetic variants, that affect a person’s risk for common conditions such as heart disease, schizophrenia, and autoimmune diseases. However, scientists don’t know what these variants do, the genes they affect, or in which cells they act. At the Broad Institute, researchers from a variety of disciplines have come together in an initiative called Variant to Function, which aims to understand the biological roles of these genetic alterations in disease. Researchers are using the latest tools in data science, machine learning, single-cell analysis, disease modeling, and genetic screening to tackle this problem in a systematic way.