Research Strategy

The Human Trisome Project was designed to be the most comprehensive cohort study of people with Down syndrome ever performed.

We created a centralized platform that allows us to generate the most datasets, or “layers,” possible from the smallest volume of blood.

When integrated with matching deep clinical data, these layers enable a precision medicine approach to understanding the unique biology and disease spectrum of individuals with Down syndrome.

Participants in the Human Trisome Project contribute a blood draw, and can optionally give urine, stool, and saliva samples. We process every blood draw to separate plasma, red blood cells, and white blood cells. Then, we isolate several specific types of white blood cells. Everything gets frozen and stored in a manner compatible with generating any and all of the datasets listed in the light blue boxes below.

An overview of all the biobank samples collected and datasets generated by the Human Trisome project.

(WBC - white blood cell. RBC - red blood cell. CBC - complete blood count. iPSC - induced pluripotent stem cell.)

Data Strategy

After data is generated, it is de-identified and stored in a database at the University of Colorado Anschutz Medical Campus. In partnership with leading computer science experts, our team has built an infrastructure that allows all these data layers to talk to each other and interact, enabling discoveries about the biology of Down syndrome that have never before been possible.

All the Human Trisome Project data layers are publicly available in a user-friendly, interactive portal, called the TrisomExplorer, which allows anyone with internet access to search and visualize the data. This public interface enables deep data mining and crowd-sourced discoveries from scientists and programmers across the world.