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Grant to help explore critical issues in Down syndrome

Oct. 25, 2018, 9:09 AM

by Jan Rosemergy

The Vanderbilt Kennedy Center (VKC) has received a one-year $604,000 grant from the National Institute of Child Health and Human Development (NICHD) to use Vanderbilt University Medical Center  electronic medical record information and biological samples to develop a deeper understanding of critical issues in Down syndrome and to provide an infrastructure for future analyses.

“This grant allows researchers to add targeted research questions related to Down syndrome across our Intellectual and Developmental Disabilities Research Center,” said Jeffrey Neul, MD, PhD, VKC director, Annette Schaffer Eskind Professor and professor of Pediatrics, Pharmacology and Special Education.

“As a part of Vanderbilt University Medical Center, we’re in a unique position to do this because of Vanderbilt’s Synthetic Derivative and BioVu.”

Synthetic Derivative refers to VUMC’s de-identified electronic medical record data, which includes more than 20 years of data. BioVU is VUMC’s database of de-identified DNA samples that can be linked to data in the Synthetic Derivative.

“These data will allow our researchers to examine biological and phenotypic markers of Down syndrome so that we can better understand how this genetic syndrome is related to a variety of disorders and conditions,” said Laurie Cutting, PhD, Patricia and Rodes Hart Professor of Special Education and VKC associate director. “For example, what types of early childhood illnesses are more commonly associated with Down syndrome as compared to other children with other developmental disabilities or children without disabilities?”

The grant is a supplement to VKC’s five-year Intellectual and Developmental Disabilities Research Centers (IDDRC) grant from NICHD. The Down syndrome project takes advantage of the aims and resources of the VKC IDDRC, including its Biostatistics and Bioinformatics Core, and the Clinical and Translational Research Core.

As principal investigator on the grant, Neul will oversee and coordinate the project, as well as provide medical and genetic input into data analyses. Cutting will facilitate the work, which integrates expertise across the VKC IDDRC.

Other faculty on the project include Bennett Landman, PhD, assistant professor of Electrical Engineering and Computer Science and director of the Center for Computational Imaging, Vanderbilt Institute of Imaging Science; Carissa Cascio, PhD, assistant professor of Psychiatry & Behavioral Sciences; Hakmook Kang, PhD, assistant professor of Biostatistics; Douglas Ruderfer, PhD, assistant professor of Medicine, Division of Genetic Medicine; Richard Urbano, PhD, research professor of Pediatrics; Angela Maxwell-Horn, MD, assistant professor of Pediatrics; and Rachel Goode, MD, assistant professor of Pediatrics.

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