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Scripps Wins $8M for Heart Disease Study with Sangamo

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) –The Scripps Translational Science Institute (STSI) and partner Sangamo BioSciences will use a $7.9 million grant from the National Institutes of Health to fund a multidisciplinary study of a region of the human genome thought to be involved in heart disease.

STSI and Sangamo will partner to use induced pluripotent stem (IPS) cells and zinc finger nuclease (ZFN)-based genetic editing in a "disease-in-a-dish" study of the 9p21 region of the genome.

The "disease-in-a-dish" approach combines IPS cells to create relevant cells and genome editing technology to cut and replace pieces of the genome. Extensive data from genome-wide association studies will also be employed for the study.

Scripps said that the study will be the nation's first heart-based "disease-in-a-dish" research.

Scripps Health will provide the samples and the genomic characterization of the cells, the Scripps Research Institute will create the IPS cells, and Sangamo BioSciences will perform the ZFN-mediated genome editing for the project, Scripps said Friday.

The 9p21 region of the human genome, which Scripps refers to as a "gene desert' because it is barren of genes, has been "strongly linked" to heart disease risk. However, researchers do not yet understand what happens in this region that leads cells eventually to become diseased.

"We're trying to figure out for the first time how this region works and which other parts of the genome or genes it's interacting with to make some people's cells become diseased," STSI Director and the study's principal investigator Eric Topol said in a statement.

The researchers will use IPS to recreate artery-lining cells for two groups of people, those who have coronary artery disease and others who have lived to age 80 without any heart disease or other major illnesses.

Next, the scientists will conduct genomic characterization of these participants' cell types and then use ZFN editing to cut and replace DNA sequences in order to understand more about how this region of the genome functions.

"We'll take people whose 9p21 region of the genome says they're at risk for coronary artery disease, and then compare the stem cells from that individual to a healthy elderly person who may also have risk in that region, but somehow doesn't have the disease," explained STSI's Director of Genomic Sciences, Samuel Levy.

"The crux of our research is to figure out which genes, or which other parts of the genome, are interacting with the 9p21 region," Levy added.

"We only know there's this zip code in the genome that's a problem spot, but we don't know what's going on in this zip code of hundreds of thousands of letters," Topol said.
"We don't know which is the offending letter or group of letters. Genome editing will allow us to edit each one and analyze which ones are the culprits."