Unlocking the Genetic Code of Down Syndrome

Puzzling connection to cancer leads to groundbreaking work
Roswell Park
Monday, April 25, 2016 - 3:42pm

At first it may seem unusual that a researcher at Roswell Park Comprehensive Cancer Center is studying genes associated with Down syndrome, which causes developmental and intellectual disabilities. But Eugene Yu, PhD, Department of Cancer Genetics, is happy to explain: People with Down syndrome have an increased risk of developing very specific types of childhood leukemia — but they are also resistant to several types of cancer, including breast and colon cancer.

Dr. Yu has another reason to focus on the genetic mysteries of Down syndrome: a young man named Marshall Filip. “From the moment we met, he’s been an inspiration to me and my work!” says Dr. Yu.

Marshall has Down syndrome. His mom, Renee, is a board member of The Children’s Guild Foundation, which provides funding for nonprofit organizations in Western New York that provide programs and services for special needs children in the areas of health care, research, education, and therapeutic recreation. Renee met Dr. Yu for the first time in 2010, when The Foundation awarded him a $250,000 grant to identify critical genes associated with Down syndrome. In 2013 he received a second grant of $250,000 to extend his research. With that generous support from The Foundation, he and his team have developed a research model that researchers call the most complete Down syndrome model in the world.

“After meeting Dr. Yu, I was excited for Marshall to meet him,” says Renee. “He showed Marshall around his lab and they had lunch. Seeing them together, holding hands, was a magical moment for me.”

Dr. Yu gave his young friend a lab coat embroidered with the name “Marshall,” a lab notebook, and a stuffed animal that Marshall named “Dr. Yu.” In turn, Marshall gave his favorite researcher a handmade clay mouse.

“I see Dr. Yu’s world of brilliance and research and Marshall’s world of Down syndrome coming together, and I’m encouraged by the impact Dr. Yu’s work will have on people like Marshall, or maybe even Marshall, someday,” Renee said. “We are extraordinarily grateful for his passion and commitment.”

Marshall is inspiring some extraordinary work. Using Dr. Yu’s model, researchers now have an important tool to help identify the specific genes responsible for the heart defects, learning deficits, and leukemia risk seen in Down syndrome — and then to develop drugs that can target those genes.