Decoding Down Syndrome’s Link to Cancer, Alzheimer’s and Other Diseases

Down syndrome is one of the most well-known and common chromosomal disorders—there are approximately 400,000 people in the United States with the condition, also known as trisomy 21. Although the incidence rate is fairly high, this is a complex disorder that is still not greatly understood, especially the link between Down syndrome and cancer.

At Roswell Park, within the Department of Cancer Genetics, we’re working to break down the causes of Down syndrome and their associated cancer risks. Our lab has developed one of the most advanced and complete models of the disorder available for research. In fact, leading institutions around the world are currently using the model developed at Roswell Park.

One of the goals of our research is to “dissect” the extra chromosome that causes Down syndrome and discover why patients with the disorder have such high rate of a type of pediatric leukemia—an approximately 500-fold higher rate compared to the general population. In addition, they have significantly lower rates of solid tumors.

These findings could help us develop new treatment methods for many types of cancer. How? The genetic mechanisms that cause someone with Down syndrome to develop leukemia—or conversely, to not develop a solid tumor—could be replicated and used to develop new drugs or other treatment methods.

Having Down syndrome is also linked to a strikingly high incidence of Alzheimer’s disease. Thanks to advances in treatment and care, people with Down syndrome are living longer than ever, but almost all of them will develop Alzheimer’s changes in their brains past the age of 40. Breaking down the molecular mechanisms of Down syndrome could allow us to better understand Alzheimer’s—a devastating and complex disease without many current treatment options.

The advantages of this research doesn’t stop there. The research laboratory model developed at Roswell Park has applications for researching many other kinds of diseases, as long as a disease has a chromosomal link. This includes learning disabilities and many kinds of cancer.

The genetic make-up of Down syndrome was sequenced just over ten years ago. In that time, we’ve made dramatic progress in understanding the disorder, and with continuing advances in medical research, it is expected that the expedited rate of discovery will continue.

This is such a complex area of research that most pharmaceutical companies aren’t interested in funding research programs like ours. Without the funding we’ve received from the Roswell Park Alliance Foundation, the Children’s Guild Foundation and the National Institutes of Health, these breakthroughs in understanding Down syndrome—and all its related diseases—would be impossible.  We’re grateful each day for the thoughtful, forward-thinking generosity of our donors.