News Release: Research, School of Medicine

Oct. 13,  2009

NIH GO Grant will Establish International Database of Genomic Imbalances in Autism, Other Disorders

News Article ImageDavid H. Ledbetter, PhD

A two-year, $3.4 million Grand Opportunities (GO) Grant from the National Institutes of Health will allow Emory University and its partners to create an international genomics database from patients with autism and other developmental disorders. The on-line database is expected to create a powerful new research resource for gene discovery as well as an invaluable clinical resource for interpreting the results of genetic testing.

David H. Ledbetter, PhD, is the project's principal investigator, and Christa Lese Martin, PhD, is co-principal investigator. Ledbetter is director of the Emory Division of Medical Genetics and professor of human genetics in Emory School of Medicine, and Martin is senior director of the Emory Genetics Laboratory and associate professor of human genetics.

The NIH award, from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is part of the American Recovery and Reinvestment Act of 2009. The award includes collaborators at Columbia University, George Washington University, the University of California-Santa Cruz, the Mayo Clinic, GeneDx and the National Center for Biotechnology Information.

The new database will allow researchers to efficiently collect clinical and genetic data, in standardized formats, from 50,000 to 100,000 patients a year undergoing genetic testing as part of their routine clinical care. It also will support the development of advanced data integration and tools to give researchers and clinicians user-friendly access to large datasets for data mining and clinical interpretation of genetic test results.

The genomic data will focus on copy number variations (CNVs) -- segments of DNA in which an individual's two chromosomes differ because of deletions or duplications of individual genes or genetic regions. These CNVs can be inherited or caused by mutations later in life. While some CNVs are now known to be common, and responsible for many kinds of differences among individuals, some CNVs are associated with disease or developmental disorders.

"The discovery that copy number variation is common in the genomes of all normal individuals and also likely plays a major role in human phenotype variation and disease has had a profound impact on our understanding of human variation," says Ledbetter. "However, our ability to predict which CNVs have biological or medical significance is severely limited. Collecting more comprehensive and accurate data on the frequency, distribution and clinical consequences of CNV from normal and various clinical populations is an urgent research priority.

Powerful technologies for whole genome assessment of CNVs, including "molecular karyotypes" or "cytogenomic arrays" are now available and are rapidly moving into clinical diagnostic use in evaluating children with unexplained intellectual disabilities and autism. Emory already has collected and analyzed more than two years of genomic patient data, using array technology, that will be combined with data from its grant collaborators as well as a large new consortium of clinical sites and genetics laboratories.

The database will be developed in partnership with the International Standard Cytogenetic Array Consortium, a group of clinical genetics laboratories aimed at standardizing the collection of cytogenetic data. With its focus on abnormal regions of the genome where deletions or duplications have been found to cause clinical problems, the new database will complement the existing and widely used Database of Genomic Variants, which contains benign CNVs from healthy individuals.

The researchers expect preliminary data from the new database to be publicly available by the end of next year.

More information about American Recovery and Reinvestment awards at Emory University is available at


The Robert W. Woodruff Health Sciences Center of Emory University is an academic health science and service center focused on missions of teaching, research, health care and public service. Its components include schools of medicine, nursing, and public health; Yerkes National Primate Research Center; the Emory Winship Cancer Institute; and Emory Healthcare, the largest, most comprehensive health system in Georgia. The Woodruff Health Sciences Center has a $2.3 billion budget, 17,000 employees, 2,300 full-time and 1,900 affiliated faculty, 4,300 students and trainees, and a $4.9 billion economic impact on metro Atlanta.

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