How the core pipeline flows

Carolina’s core facilities not only make Mark Shen’s autism research possible, they also provide efficiencies that allow his team to study more children in unprecedented ways.

Shen’s research team worked with six cores to identify infants at possible risk for autism well before the typical diagnosis at age 3 or 4, and then to procure, store and analyze saliva and blood samples from these children. The studies could lead to biological treatments and safe testing of novel drugs or gene therapies before proposing them as potential treatments to combine with behavioral therapy.

Mark Shen.

The Carolina Institute for Developmental Disabilities houses the Intellectual and Developmental Disabilities Research Center, which provides three cores that support all autism research across the University. The Research Participant Registry Core recruits children of families willing to participate in Shen’s studies, the Clinical Translational Core tracks their early brain and behavioral development, and the Data Science Coreanalyzes and summarizes complex data to detect autism biomarkers.

The Biomedical Research Imaging Center conducts MRIs to identify early biological markers in infants later diagnosed with autism. Shen reported that too much cerebrospinal fluid in a child’s brain at six months is an early risk marker for autism. Shen worked with BRIC’s MRI physicists Xiaopeng Zong and Ian Shih to determine the best type of MRI scan to determine whether brain fluid is circulating properly.

Ben Philpot, associate director of the UNC Neuroscience Center, and Michelle Itano, director of the Neuroscience Microscopy Core,set up experiments to understand the cellular and molecular mechanisms underlying the MRI findings.

Jason Stein, assistant professor of genetics, and the Human Pluripotent Stem Cell Core led by director Adriana Beltran, collected blood from children, reprogrammed the blood cells to produce stem cells and differentiated them into brain cells. Shen and Stein linked the earliest cellular and molecular features of each child’s brain with MRI scans of the same child’s brain development from six-months-to-ten years of age.

“It’s like turning back time to zoom in on individual brain cells,” Shen said.