BUFFALO, NY – There are more than 400,000 people with Down syndrome in the U.S. It is the most common genetic cause of developmental and intellectual disabilities in children, accounting for about 30 to 40 percent of all moderate to severe cases. No treatment has proven effective for developmental and intellectual disabilities associated with Down syndrome.
Y. Eugene Yu, PhD, Associate Professor in the Department of Cancer Genetics at Roswell Park Cancer Institute (RPCI), today received a three-year $250,000 grant from The Children’s Guild Foundation to continue his work to identify all the major causative genes for Down syndrome-associated developmental and intellectual disabilities. In 2010, a grant from the foundation established The Children’s Guild Foundation Down Syndrome Research Program at RPCI, enabling Dr. Yu to continue his groundbreaking work.
Using electrophysiological and behavioral tests, Dr. Yu identified disease characteristics at the physiological and cognitive levels in an animal model containing highly complex genetic engineering, which mimics the developmental and intellectual disabilities in Down syndrome patients. He proposes to use this information to identify the major causative genes for these Down syndrome disabilities. The goal: to develop effective drugs to significantly ease Down syndrome associated developmental and intellectual disabilities.
Dr. Yu’s laboratory is one of very few in the world with the capability to replicate complex chromosomal changes found in diseases such as Down syndrome, a chromosomal disorder caused by a condition known as Trisomy 21. In the United States, Trisomy 21 occurs in approximately one in 733 births. Individuals with Down syndrome also have an increased risk of developing childhood leukemia.
A team led by Dr. Yu developed a model that UK researchers, in a 2011 commentary in Disease Models & Mechanisms, referred to as “the most complete Down syndrome model currently available.” Research models have been distributed to 14 leading research teams to support Down syndrome research worldwide. The models were also distributed to the Jackson Laboratory, a nonprofit medical research organization that facilitates the sharing of genetic models to research laboratories.
Dr. Yu’s 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.
About The Children’s Guild Foundation:
Incorporated in 1910, The Children’s Guild Foundation is specifically focused on funding non-profit organizations that provide programs and services for special needs children in the areas of healthcare, research, education and therapeutic recreation within the Western New York region. The Foundation also seeks to effect change, provide opportunities, and promote inclusion & diversity for children with special needs and their families by advocating on their behalf. The research initiatives funded by The Foundation are concentrated in the area of pediatric developmental disabilities. For more information, visit www.thechildrensguild.org or call 716-362-9650.
The mission of Roswell Park Cancer Institute (RPCI) is to understand, prevent and cure cancer. RPCI, 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; maintains affiliate sites; and is a partner in national and international collaborative programs. For more information, visit RPCI’s website at http://www.roswellpark.org, call 1-877-ASK-RPCI (1-877-275-7724) or email firstname.lastname@example.org.
Leslie Garrity, Director of Strategic Marketing and Communications