Clinical OMICS

MAR-APR 2017

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 32 of 47 March/April 2017 Clinical OMICs 31 Celmatix Initiative Aims to Build Comprehensive Knowledgebase of Reproductive Potential Celmatix, a women's health company that leverages genomic data, has rolled out its Reproductive Atlas project, which has the goal of building the first popula- tion-scale dataset of reproductive health, incorporating a diverse cross-section of ethnic, geographic, and socioeconomic groups. "Celmatix has been amassing genetic, biological, and clinical data related to fertility for almost a decade," said Piraye Yurttas Beim, Ph.D., founder and CEO. "However, most of it has been focused on individuals already affected by reproduc- tive conditions and difficulties. Building the Reproductive Atlas knowledgebase will help us deliver the best products possible to a diverse group of women, earlier in their lives before reproductive conditions begin." According to the company, the proj- ect will provide a more complete under- standing of the impact of genomics, diet, lifestyle, and environment on all women's fertility, regardless of known risk factors. The first study conducted via the Reproductive Atlas project is with the BioMe Biobank program run by the Charles Bronfman Institute for Person- alized Medicine at the Icahn School of Medicine at Mount Sinai. Additional col- laborators will be named in the coming months. sequences for regulatory activity in one experiment . Using the new NHGRI funds, the UW researchers plan to use this tech- nique to characterize 100,000 sequences and mutate 10,000 sequences with CRISPR-Cas9 to observe the resulting effects on functional output. "By carrying out these mass-scale sequence characterizations, we hope we can understand how mutations in these regulatory elements lead to human disease," Dr. Ahituv said. "We see that more and more diseases are associated with noncoding regions— if you look at the genome-wide asso- ciation studies, 90% of the associations are noncoding." Other researchers, such as William Greenleaf, Ph . D . , and Michael Bassik, Ph . D . , genetics professors at Stanford University, are interested in uncover- ing the genome's physical regulatory landscape . "The genome is about two meters long, and it's stored in a nucleus that is about five microns in diameter, so it's a spectacular topological prob- lem," Dr. Greenleaf explained. "So the solution to some of that is the portion of the genome that is important to cell function remains accessible and able to be bound by protein factors, and regions that are not being used are folded up and sequestered away." Dr . Greenleaf's and Dr . Bassik's groups will be using a variety of meth- ods to characterize the regulatory ele- ments of the genome. "The first steps were to map the regulatory elements [in the genome]," Dr. Greenleaf said. "Now we're interested in trying to perturb these elements that have been identified and to link them back to a biological phenotype, trying to understand exactly what they do in a mechanistic way." In addition to characterization cen- ters, the NHGRI also awarded funds to mapping centers, data coordinat- ing centers, data analysis centers, and computational analysis centers at var- ious institutions across the U . S . Along with revealing the secrets of the dark genome, the new insights gained from these collective efforts may also help develop novel treat- ments for disease . "Having a cata- log of regulatory elements…[is] also a very important therapeutic tool because these could be targeted," Dr. Ahituv said . Nadav Ahituv, Ph.D., (right) in his UCSF laboratory consulting with postdoc Fumitaka Inou, Ph.D. koya79 / Getty Images

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