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BGI, CHOP to Launch Sequencing Studies of 1,000 Rare Diseases

NEW YORK (GenomeWeb News) – The Children's Hospital of Philadelphia and BGI will work together on a sequencing-based project to discover genetic variants involved in 1,000 rare diseases, the partners said today.

The plan to study these rare diseases is part of a partnership that BGI and CHOP unveiled last fall, called [email protected], under which they will harness BGI's sequencing capabilities with the hospital's biobank and clinical phenotyping resources to study pediatric diseases.

In this study, the partners said they will analyze well-characterized DNA samples from patients and families with single-gene inheritance patterns, with the hope of identifying variants that could be used in diagnosing these rare diseases and developing new ways to treat them.

Although rare diseases individually affect a small percentage of the population, there are an estimated 7,000 to 8,000 of them, and taken cumulatively they affect roughly one in every 12 newborn children, CHOP said. In addition, research for treatments for these diseases is not as well funded as for more common disorders.

"Experimental results show that the genome-wide sequencing approaches we are currently pursuing are more cost-effective and efficient than previous linkage-mapping and candidate gene methods. This is partly due to the fact that genome-wide sequencing approaches make it possible to pinpoint the cause of many rare diseases using much smaller numbers of samples," BGI Deputy Director Xun Xu said in a statement.

The partnership combines "BGI's robust capabilities and expertise in [next-generation sequencing] and bioinformatics analysis with CHOP's extensive biobanking and clinical and translational expertise," Hakon Hakonarson, who is director of the Center for Applied Genomics at CHOP and co-director of the [email protected] Joint Genome Center, said in a statement.

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