Clinical OMICS

JAN-FEB 2019

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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www.clinicalomics.com January/February 2019 Clinical OMICs 41 BraunS / Getty Images KEVIN DAVIES Executive Editor CRISPR Journal CRISPR Twins I n November 2018, several hundred scientists gathered in Hong Kong for the second interna- tional summit on Human Genome Editing. It was supposed to be an important meeting, coming three years after the inaugural meeting in Wash- ington, DC, at which leaders in the emerging field of genome editing urged caution on apply- ing such a nascent technology to something as controversial as the editing of human embryos. One member of the Hong Kong organizing com- mittee even said she expected the conference to be a little "boring." The conference was completely overshadowed by a young Chinese scientist, who in the course of 72 hours went from complete a unknown to one of the most googled scientists in the world. Born in 1984, He Jiankui (Southern University of Science and Technology) trained in the United States, earning a Ph.D. at Rice University and a postdoc with renowned bioengineer Stephen Quake at Stanford. He was lured back to Shen- zhen, China, and over the past few years has received millions of dollars (US) in funding and helped launch two companies. But by the time he made his appearance in Hong Kong, the whole world was watching (well, 1.8 million online anyway) and #CRISPRbabies was trending. Two days before the conference, an eagle-eyed reporter posted the tantalizing report that He Jiankui had registered a gene editing clinical trial and speculated that CRISPR babies might already have been born. Within the day, (continued on next page) Majeti suggested, a result of the vast amount of information being generated by the sequencing revolution. For example, a paper published in Nature this past October, which has been called a "tour de force," analyzed the extensive and com- plex patterns of mutational patterns found among AML patients and generated a publicly-accessible dataset showing the links between the mutational events of the disease and patients' responses to the drugs used to treat it. One of the two lead authors on the paper, Brian Druker, M.D., the director of the Knight Cancer Institute at Oregon Health & Science University and an investigator with the Howard Hughes Medical Institute, said that his lab "has been trying to integrate functional and genomic data to accelerate our understanding of disease pathogenesis and approaches to therapy" adding that "because of the availability of next-gen sequencing, RNA- Seq and improved drug screening technologies, we were able to combine these technologies to analyze a large cohort of samples from patients with AML." And, this type of work shows no signs of slow- ing down. In fact, the analysis of AML genomics is moving beyond conventional bulk next-gener- ation sequencing to single cell sequencing. New work presented by a group from the University of Texas MD Anderson Cancer Center, at the Ameri- can Society of Hematology Meeting in December 2018, used a high-throughput, single-cell DNA sequencing platform with droplet microfluidics from Mission Bio to characterize the intra-tumor genetic heterogeneity of AML. The team ana- lyzed 76 bone marrow samples (333,731 cells) to generate an atlas of 208 driver mutations. This characterization of the clonal heterogeneity of AML gave information about both the evolution- ary history of driver mutations and whether they are found as single mutations or co-occur at the single cell level. The genomic diversity behind AML is incred- ibly complicated, such that each patient practi- cally stands alone as an individual case. Because of that, stratifying patients based on their genet- ics and new mutation-based drug development will be the game-changers in the future treat- ment of the disease. Both of these goals may be made possible by the advances coming from the genomics revolution. "AML is undergoing a revolution from a clinical point of view." —Ravi Majeti M.D., Ph.D. Stanford University

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