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China’s BGI Teams Up With CHOP For Genomics Work In Rare Diseases

This article was originally published in PharmAsia News

Executive Summary

China’s genomics leader, BGI, has furthered its U.S. presence with a collaboration with the Children’s Hospital of Philadelphia focusing on rare disease diagnostics.

Chinese genomics research institute BGI has expanded its presence in the U.S. through a collaboration with the Children's Hospital of Philadelphia (CHOP), which will help develop new diagnostics for rare genetic diseases. The two institutions will bring their expertise and research together in a program dubbed the 1,000 Rare Disease Project.

Announced June 18, Hakon Hakonarson, director of the Center for Applied Genomics at CHOP and co-director of the project said in an interview that the collaboration has been two years in the making and sprung up out of the need for CHOP to take its current genomics center services to the next level and for BGI to continue to expand in the U.S.

The Center for Applied Genomics at CHOP in Philadelphia currently has more than 150,000 samples in its repository and tapped BGI to help it begin sequencing those samples in an effort to make diagnostics for rare diseases.

"It brings together the unique strengths of two world-class institutions, combining BGI's robust capabilities and expertise in next-generation sequencing and bioinformatics analysis with CHOP's extensive biobanking and clinical and translational expertise. This will undoubtedly facilitate rapid and accurate diagnosis of rare diseases and lead to new therapeutic interventions," said Hakonarson.

Working with BGI will allow the work to get done much faster and more cost effectively than if CHOP had tried to build the program internally, he said. While the amount of funding was undisclosed, Hakonarson said that it would be split equally between the two institutions and that there is currently enough funding to sequence about 1,000 samples. Both institutions will be raising further funds as needed and the collaboration will be taking on outside projects, including work for pharmaceutical companies that could benefit from the large number of samples that CHOP has.

The work will be housed at a facility in Philadelphia and the samples will come from the CHOP repository while BGI will provide the expertise in bioinformatics. The project began in November 2011 with work being contributed by eight scientists from BGI and seven from CHOP. There is no defined time frame for the agreement, but work done by the collaboration will be evaluated in three years to see if changes to the platforms are necessary.

“We envision this will grow into a patient-service diagnostic model by continuing to advance the research to serve patients,” said Hakonarson.

Building A Global Presence

BGI, known prior to 2008 as the Beijing Genomics Institute, is the world’s largest genome research institute, based in Shenzhen. The institute was founded in 1999, and participates in a number of international and local projects, including the Human Genome Project and, in 2009, mapping the genome of the giant panda. The company has centers in Beijing, Hangzhou, Shanghai, Hong Kong and a number of other cities throughout China.

Earlier this year, the company opened a center in Copenhagen to identify unknown cancer pathogens and contribute to Denmark's genome sequencing project (Also see "Novo Nordisk And China’s BGI Sign Collaboration Agreement" - Scrip, 14 Mar, 2012.).

BGI works with other pharmaceutical companies as well; in September 2011 it signed a deal with Merck & Co. Inc. to discover biomarkers and genomic technologies (Also see "Merck And BGI Sign Global Deal Focused On Biomarkers, Genomics" - Scrip, 14 Sep, 2011.). In March 2012, Denmark’s Novo Nordisk AS began working with BGI on diabetes research.

Most recently, BGI inked a two-year partnership with GE Healthcare that will examine the underlying genetic variation between ethnically diverse human stem cells, with a focus on cardiomyocytes, the cells that comprise the cardiac muscle, and hepatocytes, or cells found in the liver (Also see "GE Healthcare Partners With China’s BGI For Stem Cell Drug Discovery" - Scrip, 3 Jul, 2012.).

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