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New Type 1 Diabetes Test Among 2020's Top Genomic Advances

“We’re really excited by these findings. They suggest that the routine heel-prick testing of babies done at birth could go a long way towards preventing early sickness as well as predicting which children will get type 1 diabetes years later.”

— Bill Hagopian, MD, PhD, PNRI Senior Investigator

New Type 1 Diabetes Test Among 2020’s Top Genomic Advances

A paper co-authored by Dr. William Hagopian, describing a new method for predicting which newborns will develop type 1 diabetes (T1D), was named one of the Top 10 Advances in Genomic Medicine in 2020 by the American Society for Human Genetics. The paper, “A Combined Risk Score to Predict T1D in Children,” was published in Nature Medicine earlier this year.

The Hagopian lab is part of a groundbreaking international study, known as the TEDDY Study, that follows more than 8,000 children with increased genetic risk for developing T1D. Researchers found that a combined-risk score — including multiple factors such as genetics, a family history of diabetes, and the presence of certain biomarkers — more accurately predicts which babies will go on to develop T1D in childhood.

The new method dramatically improved efficiency in screening newborns to prevent ketoacidosis, a potentially deadly complication that affects 40% of children with T1D.

The combined-risk score will soon be used in a new study. The Child and Adolescent Structured Competencies Approach to Diabetes Education (CASCADE) study is a motivational, patient-centered program designed to help children and adolescents improve their self-management skills and quality of life. The study will begin screening participants this month. www.CascadeKids.org

“It takes a village to do work like this,” said William Hagopian, MD, PhD, director of diabetes research at PNRI and co-author of the paper. “Thanks to everyone who was involved.”

Diabetes Research at PNRI

PNRI researchers are leaders in studying the genetic and environmental risk factors that lead to T1D. Earlier this year, the Hagopian lab also published research on the role certain viruses may play in the development of T1D in children.

Learn more about Dr. Hagopian’s innovative research.

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