At the Broad Institute, researchers are revealing deep biological insights about the causes of disease, which are leading to new ways to monitor, diagnose, and treat patients with greater precision. These include new tools that help predict diseases well before symptoms appear, and more effective therapeutics that reduce the chance of relapse or drug resistance. Learn more about #HowWeScience.
Understanding kidney disease
Uncovering a genetic culprit, MUC1
For years, researchers knew that a genetic abnormality linked to a rare kidney disease called MKD was hidden somewhere on chromosome 1, but were unable to find the elusive mutation. In 2013, researchers at the Broad Institute found the culprit — a gene called MUC1 — using decades-old genome sequencing and analysis methods that can scan segments of repetitive DNA that were notoriously difficult for next-generation sequencers to read. Since then, a separate team at the Broad has discovered that a previously developed drug can remove the effects of this toxic mutation in kidney cells, pointing to a potential treatment for this devastating disease.