Research Strategy

The Human Trisome Project was meticulously designed from the start to be the most comprehensive pan-omics cohort study of people with Down syndrome ever performed.

We created a centralized pipeline that allows us to generate the most datasets, or “layers”, possible from the smallest volume of blood. When integrated with deep matching 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. 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 down and banked in a manner compatible with generating any and all of the datasets listed in gray boxes below.


 An overview of all the biobank samples to be collected and datasets to be generated by the Human Trisome project.  (WBC - white blood cell. RBC - red blood cell. CBC - complete blood count. iPSC - induced pluripotent stem cell.)

An overview of all the biobank samples to be collected and datasets to be 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 on the Rosalind supercomputer at the University of Colorado Anschutz Medical Campus. In partnership with leading computer science experts, our team is building the infrastructure that will allow 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.

Eventually, all the Human Trisome Project data layers will be publicly available in a user-friendly, interactive portal, allowing anyone with internet access to search and visualize the data. This public interface will enable deep data mining and crowd-sourced discoveries from scientists and programmers across the world.