VKC receives NICHD grant to improve understanding of critical issues in Down syndrome

Adult with down syndrome

The Vanderbilt Kennedy Center (VKC) has received a 1-year grant in the amount of $604,000 from the National Institute of Child Health and Human Development (NICHD) to use Vanderbilt University Medical Center (VUMC) 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.

Jeffrey Neul, M.D., Ph.D.

Jeffrey Neul, M.D., Ph.D.

“This grant allows researchers to add targeted research questions related to Down syndrome across our Intellectual and Developmental Disabilities Research Center,” said Jeffrey Neul, M.D., Ph.D., VKC director, Annette Schaffer Eskind Chair, 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.

Laurie Cutting, Ph.D.

“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, Ph.D., Patricia and Rodes Hart Professor of Special Education; professor of Psychology, Radiology, and Pediatrics; 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 the VKC’s 5-year Intellectual and Developmental Disabilities Research Centers (IDDRC) grant from NICHD; the VKC is among the national network of 14 IDDRCs. This 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 this supplemental grant, Neul will oversee and coordinate the project, as well as providing 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, Ph.D., assistant professor of Electrical Engineering and Computer Science and director of the Center for Computational Imaging, Vanderbilt Institute of Imaging Science; Carissa Cascio, Ph.D., assistant professor of Psychiatry & Behavioral Sciences; Hakmook Kang, Ph.D., assistant professor of Biostatistics; Douglas Ruderfer, Ph.D., assistant professor of Medicine, Division of Genetic Medicine; Richard Urbano, Ph.D., research professor of Pediatrics; Angela Maxwell-Horn, M.D., assistant professor of Pediatrics; and Rachel Goode, M.D., assistant professor of Pediatrics.

Down syndrome is the most common genetic cause of intellectual disability. Each year in the U. S., approximately 5,300 babies are born with Down syndrome. As with other genetic syndromes, there are significant individual differences in physical and cognitive characteristics.

The National Institutes of Health (NIH) provided this grant opportunity across NIH institutes, offering administrative supplements addressing specific Down syndrome research objectives to current NIH grants that are not focused on Down syndrome.

This trans-NIH program supports research on commonly occurring conditions in persons with Down syndrome that are also seen in the general population, such as Alzheimer’s disease and dementia, autism, cataracts, celiac disease, congenital heart disease, immune system dysregulation, and diabetes. This is known as the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). Information learned by studying individuals with Down syndrome will enhance understanding about these conditions in persons without this genetic syndrome.

Elise McMillan, J.D.

Elise McMillan, J.D.

“As both a parent and a professional in this area, we’re thrilled for the Center to receive these expanded resources in the area of Down syndrome research,” said Elise McMillan, J.D., co-director of the VKC University Center for Excellence in Developmental Disabilities (UCEDD), director of VKC Community Engagement and Public Policy, and senior lecturer in Psychiatry & Behavioral Sciences. “The Center already partners with the Down Syndrome Association of Middle Tennessee and the other Down syndrome groups in the MidSouth, and this will allow us to broaden those partnerships. Many of our UCEDD activities address health care for adults with intellectual and developmental disabilities, and the findings from this important project will be of great interest to individuals, families, educators, clinicians, and researchers.”

Jan Rosemergy is VKC director of Communications and Dissemination.

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