Advanced Research Models Developed at RPCI to Support Down Syndrome Research Worldwide

  • RPCI research team developed most advanced models to date of Down syndrome
  • The models have been shared with leading researchers in North America, Europe
  • Will be a tool for researchers studying the syndrome, its relationship to cancer

BUFFALO, NY — The Roswell Park Comprehensive Cancer Center (Roswell Park) research team that developed the most advanced research models to date of Down syndrome has distributed the models to 14 leading research groups in North America and Europe that are investigating the genetic condition, also known as Trisomy 21. The models have also been distributed to the Jackson Laboratory, a nonprofit medical research organization, so that they can be shared with additional basic scientists worldwide to advance research on Down syndrome. 

A team led by Y. Eugene Yu, PhD, Associate Professor in Roswell Park’s Department of Cancer Genetics, developed a mouse model that UK researchers, in a 2011 commentary article in the journal Disease Models & Mechanisms, referred to as “the most complete Down syndrome model currently available.” The model features trisomy, or triplication, of more than 170 genes in mice that correspond to Down syndrome in humans.

Dr. Yu’s mouse model imitates exactly the genetic structure of Trisomy 21 in humans, allowing researchers to identify and target in these models the genes that control the leukemia, heart defects, learning deficits and skeletal abnormalities seen in Down syndrome.

In the United States, Trisomy 21 occurs in approximately one in 733 births, and more than 400,000 people have Down syndrome.

“Down syndrome is the leading cause of a particular type of leukemia, megakaryoblastic leukemia, and of congenital heart disease and intellectual disability, so we wanted to make the models available to researchers in a number of fields,” said Dr. Yu, who directs the Children’s Guild Foundation Down Syndrome Research Program at Roswell Park. “We expect that the models will be a powerful tool for better understanding cognitive deficits and the development and progression of leukemia, and that they will also help us to discover why the incidence of many solid tumor cancers is much lower among people with Down syndrome.”

Dr. Yu’s laboratory is one of very few in the world with the capability to engineer complex chromosomal changes found in diseases such as Trisomy 21 and cancer. The team’s research at Roswell Park toward development of this mouse model has been supported in part by grants from the Roswell Park Alliance Foundation, Jérôme Lejeune Foundation, Louis Sklarow Memorial Fund, Association for Research of Childhood Cancer and American Cancer Society, and continues with funding from The Children’s Guild Foundation and the National Institutes of Health. Dr. Yu began this research several years ago working with Dr. Allan Bradley at Baylor College of Medicine.

The mission of Roswell Park Comprehensive Cancer Center is to understand, prevent and cure cancer. Roswell Park, founded in 1898, was one of the first cancer centers in the country to be named a National Cancer Institute-designated comprehensive cancer center and remains the only facility with this designation in Upstate New York. The Institute is a member of the prestigious National Comprehensive Cancer Network, an alliance of the nation’s leading cancer centers; Roswell Park also maintains affiliate sites and is a partner in national and international collaborative programs. For more information, visit Roswell Park’s website at, call 1-800-ROSWELL (1-800-767-9355) or email

Media Contact

Annie Deck-Miller, Senior Media Relations Manager