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BGI and the Children's Hospital of Philadelphia launch the 1,000 Rare Diseases Project
Date:6/18/2012

BGI, the world's largest genomics organization, and The Children's Hospital of Philadelphia (CHOP) today announced that they have jointly initiated the 1,000 Rare Diseases Project with the aim of accelerating the discovery of genetic variants underlying rare diseases.

The project will employ integrative genomic approaches and innovative analysis pipelines, laying a solid genetic foundation for future clinical diagnosis and treatment. The project primarily focuses on sequencing 1,000 rare diseases, including ones that affect both children and adults. Under the collaboration agreement, BGI and CHOP will use next-generation sequencing (NGS) technologies to analyze well characterized DNA samples from patients and families with single-gene inheritance patterns.

Rare diseases usually refer to either life-threatening or chronically debilitating diseases most of which are inherited that individually affect a small percentage of the population, but in total, have a large impact, affecting approximately 1 in every 12 newborn children. It is estimated that there are between 7,000 and 8,000 known rare diseases in the world. However, patients with rare diseases are currently a significantly underserved population, with insufficient social and medical support, because the small numbers of patients for any given disease makes it challenging to recoup the medical investments in research and development of therapies.

NGS technologies have revolutionized life sciences, allowing researchers to efficiently identify the genetic variants underlying rare diseases through whole-exome or whole-genome sequencing. "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 o
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Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia

Joyce Peng, Ph.D.
joyce.peng@bgiamericas.com
626-222-5584
BGI Americas Corporation
Source:Eurekalert


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