Unleashing the power of trisomy 21 to advance biomedical research

Designed to be the largest and most comprehensive study of its kind, the Human Trisome Project will help us understand why individuals with Down syndrome (caused by trisomy of chromosome 21) are protected from some medical conditions, such as cancer, while highly predisposed to others, such as Alzheimer's disease and autoimmune disorders.

Therapeutic leverage

This research will serve, first and foremost, all individuals with Down syndrome. It will also benefit millions of others who are affected by any one of the many medical conditions modulated by trisomy 21.

A natural history study with deep clinical data, a multidimensional biobank, and pan-omics datasets

For the first time ever, scientists and the community alike can explore a wealth of biological data from people with Down syndrome generated by the Human Trisome Project. Our new data exploration portal is officially live: The TrisomExplorer.

Collaborative community advancing science and medical care for people with Down syndrome

The Human Trisome Project wouldn’t be successful without enormous support from the community of self-advocates, families, scientists, and medical professionals. Get involved by participating, reading up on our science and results, and spreading the word.

Human Trisome Project by the numbers

> 15,000 unique bio-specimens

> 1,940

Plasma samples

> 1,370

White blood cell 
samples

> 1,629

Red blood cell samples

> 1,160

DNA samples

> 1,566

RNA samples

> 1,612

Tongue swabs

Accelerating a precision medicine platform

50+

Projects supported

20+

Publications enabled

> 3,100 datasets generated

1,100+

Clinical histories

500+

Metabolomes

500+

Transcriptomes

> 1,160

Microbiomes

400+

Genomes

400+

Immune maps

> 1000 Participants erolled

> 750

Individuals with Down syndrome

> 160

Family Units

47

States represented

Where our participants are located