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.
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
> 2,105
Plasma samples
> 1,532
White blood cell samples
> 1,789
Red blood cell samples
> 1,325
DNA samples
> 1,731
RNA samples
> 1,782
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
> 1290 Participants enrolled
> 877
Individuals with Down syndrome
> 160
Family Units
47
States represented