Clinical OMICS

SEP-OCT 2018

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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42 Clinical OMICs September/October 2018 www.clinicalomics.com (continued from previous page) to ¥700 million ($5.4 million to $6.3 million). "We acknowledge that the majority of registered patients remain undiagnosed even after mutual referral within the cluster of related research consortia," a team of AMRD researchers stated in the study. "However, intensive research on specific cases, accompanied by training for nationwide collaborators by the IRUD network, will potentially lead to diagnostic and therapeutic innovations in both the short- and long-term." AMRD has laid out three "next steps" or future initiatives to build on IRUD research. The initiatives, dubbed "IRUD Beyond," include developing innovative drug candidates by targeting novel, single pathological mutations discov- ered through the Initiative, applying new technologies to cases that remain unsolved after NGS-based genome analy- sis, and facilitating international data sharing. One key effort, AMRD said, by which IRUD plans to seek further data-sharing opportunities and ensure patients are given the best chance of receiving a diagnosis, is through participation in international efforts, notably the Interna- tional Rare Diseases Research Consortium (IRDiRC). China's 100,000 Genomes Project launched in December 2017 as the nation's first major national human genome research effort. It is one of numerous initiatives through which China intends to fulfill a component of its 13 th Five– Year Plan (2016–2020) identified genomics as an area worthy of direct investment. The Project is led by researchers at Harbin Institute of Technology (HIT) who will sequence the genomes of 100,000 people from different ethnic backgrounds and regions across China, from the Han ethnic majority to nine minorities with a combined population of 5 million, including the Zhuang and Hui peoples. "Its main goal is to study how Chinese people transform from health to disease, environmen- tal impacts, and the interac- tions between environmental factors and genes, and its influence on people's health," Prof. Wang Yadong, chief scientist of the 100,000 Genomes Project and principal scientist and presi- dent of HIT's School of Computer Sciences and Technology and the Institute of Biological Information Technology, told China Global Television Network. The Project will consist of three phases. The first is a demonstration project to sequence the genomes of 10,000 people. The second will compile sequencing and pheno- type data from 50,000 people and will use the data to draw genome and health maps for all 60,000 people sequenced at that point. In the third phase, researchers will complete the genome and health maps of all 100,000 genomes. The Project is in its initial gene sample collection stage, Yu Jun, Ph.D., former deputy head of the Beijing Institute of Genomics under the Chinese Academy of Sciences (CAS), told Global Times, an English-language newspaper pub- lished by People's Daily, the official newspaper of the Chi- nese Communist Party. Yu said the Project will include a "health contrast" pool of genetic data from people with various diseases in order to study correlations between specific genes and specific diseases, such as dia- betes. The program is projected to take four years, and is funded by China's Ministry of Science and Technology, with HIT stating the initiative will cost an estimated RMB 89.85 million ($13.2 million). 100,000 Genomes Project CHINA novielysa / Getty Images

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