Our Mission
Our mission is ambitious, yet simple: to significantly improve the lives of people with Down syndrome through a natural history study to understand how trisomy 21 causes a different disease spectrum.
Our Goals
1. Perform the largest and most comprehensive study of individuals with trisomy 21. See our scientific strategy.
2. Bring together top basic scientists, clinical researchers, and data scientists to translate this powerful knowledge into new diagnostic and therapeutic tools. Meet our collaborators.
3. Create matching public databases and biorepositories of key biological samples to accelerate research on Down syndrome worldwide. Explore our data.
Background
Down syndrome and the different disease spectrum
Chromosomes are bundles of DNA found inside the cells of your body. A typical person has 23 different chromosomes and is born with two copies of each. 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 approximately 1 in 700 newborns 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 considerably 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 an 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.
INCREASED incidence
Alzheimer's disease, Cognitive differences.
Autism. Epilepsy.
Pediatric leukemias.
Autoimmune disorders.
Obstructive sleep apnea. Heart disease.
DECREASED incidence
Coronary artery disease, High blood pressure.
Solid malignacies.
How the Human Trisome Project will help
Often times, medical conditions like those mentioned above are studied by specialized researchers in different fields and at different universities. The Human Trisome Project is different. Our team is bringing together numerous experts with 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 "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.