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NIH Awards $9M for New GTEx Projects to Ramp up Genomic Variation Resource

NEW YORK (GenomeWeb) – The National Institutes of Health has awarded roughly $9 million to fund eight projects that will add to knowledge about how genes are expressed and regulated in human tissues, as part of the Genotype-Tissue Expression (GTEx) initiative.

The new grants, which couldtotal as much as $15 million over their full three-year terms, will expand upon the GTEx resource database and tissue bank, which launched in 2010, by generating more data and knowledge about gene expression and genomic variation, NIH said today.

"The new studies complement the current GTEx project in assessing genomic variation and gene expression," Simona Volpi, GTEx program director in the National Human Genome Research Institute's Division of Genomic Medicine, said in a statement. "They delve deeper into what is happening in tissues on a molecular basis to explain how genomic variation affects how genes work. Ultimately, GTEx will provide an atlas of human gene expression."

By providing details about certain features of cells and tissues, such as methylation patterns and protein levels, these new projects will "help paint a clearer picture of how genomic variation leads to particular diseases," she added.

The research teams have access to more than 30 tissue types, which were collected through autopsies or organ and tissue transplant programs, for their efforts to identify and catalog genomic variants and gene expression. Eventually, the GTEx project will include samples from 900 deceased donors.

At the University of Washington, principal investigator Joshua Akey will receive $1.9 million to develop a comprehensive catalog of somatic mutations that other researchers may use to understand how these mutations are involved in human diseases. Also at UW, PI John Stamatoyannopoulos will use a method called DNase I sequencing to study how genetic variants in non-protein coding regions of the genome affect regulatory regions and control gene activity patterns.

Johns Hopkins University PI Andrew Feinberg will receive $3.2 million for an effort to analyze DNA methylation patterns across the genome, which could aid studies of DNA methylation, gene expression, and disease.

Massachusetts Institute of Technology PI Manolis Kellis won a $1.3 million grant to characterize the epigenomic effects of genetic variation in tissues that play roles in diabetes, heart disease, and cancer.

Stanford University PIs Michael Snyder and Hua Tang will use mass spectroscopy to characterize the different ways in which proteins vary across more than nine tissue types, creating a resource for scientists to understand the genetic basis of complex traits and try to predict individual disease susceptibility. Also at Stanford, PI Jin Billy was awarded $1.2 million to measure allele-specific expression in different tissue types to better understand the interaction between genetic variants that regulate gene expression and disease-causing variants.

At the University of Chicago, PI Barbara Stranger will use a $1 million grant to characterize the proteome with the aim of identifying specific proteins or protein networks that are involved in disease, and PI Brandon Pierce received a $1.4 million grant to examine telomere length in blood and how it may be involved in DNA damage and disease.

The GTEx project is funded by the NIH Common Fund, the National Institute of Mental Health, and the National Heart, Lung, and Blood Institute.

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