CZI Grant Activities

Boston Children's Hospital and the chILD Foundation were jointly awarded a CZI joint grant to create an open-source atlas of childhood inflammatory interstitial lung diseases at a single-cell resolution of children with diverse ancestries. Within that award, the chILD Foundation was awarded funds to support patient education about research and to build our capacity to do research.

About the Science

Most of us know genetic testing can help diagnose diseases. But just having a gene for something doesn't tell us everything. Think of it like this: our DNA holds all the blueprints our cells use to create the building blocks they need to work. However, these blueprints don't show us which building blocks are actually being made by each cell. To truly understand the cause of a lung disease, it's crucial to know how different lung cells change their function because of a genetic change.

This is where single-cell mRNA transcriptomics comes in. Our lungs have about 80 known cell types, each with a unique job and specific genes they turn on to make proteins. By mapping out the proteins being made in individual cells from patients with a form of chILD, we can create a detailed profile of the changes in each type of cell as a result of that mutation. We can then compare this profile to those from healthy lungs. This powerful technology helps us pinpoint exactly which cells are malfunctioning and understand their specific problems at a cellular level.

As we identify these patterns in different diagnoses, we can build a "cell atlas." This atlas helps scientists get a much clearer picture of a disease process than just looking at genetics alone, ultimately leading to better treatments.