Our mission is ambitious, yet simple: to significantly improve the lives of people with Down syndrome by understanding how trisomy 21 causes a different disease spectrum.
1. We will perform the largest and most comprehensive study of individuals with trisomy 21, including extensive characterization at the clinical, physiological, cellular and molecular levels.
2. We will bring together top data scientists, basic scientists and clinical researchers to translate this powerful knowledge into new diagnostic and therapeutic tools. These findings will benefit individuals with trisomy 21 and the world population as a whole.
3. We will create matching public databases and bio-repositories of key biological samples to accelerate research on Down syndrome worldwide.
Down syndrome and the different disease spectrum
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 400,000 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. However, they are protected from some conditions, like solid cancers and heart disease. 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 12+ "layers" of data collected by The Human Trisome Project will help to explain this variability by looking at genetic, metabolic, microbial, immune, and many other 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.