The human trisome project will help speed research on down syndrome and medical conditions Such as autism, alzheimer's and cancer.


Down syndrome and the "Trisome"

Chromosomes are bundles of DNA found inside the cells of your body. A typical person has 23 chromosomes and is born with two copies of each of them. Down syndrome is caused when an individual is born with a third copy of chromosome 21, an event called trisomy 21.

Trisomy 21 currently affects more than 200,000 people in the United States. It impacts the development of nearly every major organ system in the body, which causes individuals with Down syndrome to experience a considerable different array of health problems than the typical population. For example, nearly all individuals with Down syndrome will develop signs of Alzheimer's disease at an early age. Individuals with Down syndrome also have increased risk of developing leukemias, autoimmune disorders, pulmonary hypertension, autism, epilepsy, and various hearing and vision problems. To date, little is known about how trisomy 21 causes this different disease spectrum.

How The Human Trisome Project will help

Often times, medical conditions like the ones mentioned above are studied by specialized researchers in different fields and at different universities. The Human Trisome Project is different. We are bringing together a large team of experts for a unified goal: to understand how trisomy 21 causes a different disease spectrum.

Although we know that individuals with Down syndrome have an increased risk of certain medical conditions, we don't yet understand what causes the particular combination of health problems that any given individual may experience. The many "layers" of data collected by The Human Trisome Project will help to explain this variability by looking at genetic, epigenetic, metabolic and microbial factors and how they affect a person's health in the context of trisomy 21.

Importantly, when completed, this project will significantly advance our understanding of several major medical conditions and human biology in general, enabling the development of novel diagnostic and therapeutic tools to serve not only individuals with Down syndrome, but also the billions worldwide who experience conditions affected by trisomy 21.

More information about Down syndrome can be found on this fact sheet.

How does it work?

Gleaning valuable insights from a small amount of blood

Blood contains many different types of cells, such as red blood cells and immune cells. Our Sample Processing team separates blood into its different components so that we can study them each in detail. The Human Trisome Project has several specialized Research Teams that will collect and analyze the data from each cell type. When combined with de-identified (anonymous) clinical data about each participant, the data collected from blood will help us learn about numerous aspects of trisomy 21.

Yet more discoveries from saliva, stool and urine

Samples of saliva and stool will enable studies of the oral and gut microbiomes. Urine samples are used to obtain key cells for additional studies.

Are You interested in participating in down syndrome research? 

Visit the Get Involved page to learn more.