Rare Disease

Broad scientists are using brain, kidney, and tumor organoids to gain new insights into disease mechanisms and therapeutic approaches.

Researchers find that several genetic disorders, including MUC1 kidney disease, may share a novel molecular mechanism — and identify a promising therapeutic lead.

Mapping mouse airways, brown fat and exercise, and cancerous dependencies.

A comprehensive single-cell analysis of airway cells in mice, validated in human tissue, reveals molecular details critical to understanding lung disease.

New research provides insights into the genetic variants that increase risk of Crohn’s disease, as well as other rare diseases

Inspired by rare genetic disease, researchers develop a compound that can protect kidney cells from death and restore kidney function in multiple animal models of progressive kidney disease.

Broad Institute scientists deploy RNA sequencing to nail down disease-causing gene mutations in patients for whom genetic analysis failed to return a diagnosis. The study demonstrates the power of RNA sequencing to augment standard diagnostic tools in the clinic.