Navigation Links
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 of samples," said Xun Xu, Deputy Director of BGI.

"The BGI/CHOP collaboration is an ideal partnership," said Hakon Hakonarson, M.D., Ph.D., Director of the Center for Applied Genomics at CHOP and co-Director of BGI@CHOP Joint Genome Center; "It brings together the unique strengths of two world-class institutions, combining BGI's robust capabilities and expertise in NGS 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.

"We welcome this opportunity to work with one of the largest and most prestigious children's hospitals in the world," said Professor Jian Wang, President of BGI, "We would like to enhance rare diseases research through collaborative projects with researchers worldwide to help conquer rare diseases and improve the health and quality of life of those living with a rare condition."


'/>"/>
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


Related biology news :

1. How alert hospital employees improved hospitals MSRA infection rate
2. Spectros Launches OnCall Wireless Remote Access for T-Stat
3. NIST launches new website to educate industry about alternatives to mercury thermometers
4. Progress in Osteoporosis re-launched with new design, now invites commentary
5. PuraMed BioScience®, Inc., Launches a Marketing Blitz for LipiGesic® M, Its Clinically-Tested Migraine Pain Reliever in the Denver, CO Region to Coincide with the NACDSs Marketplace 2012 Trade Convention
6. New peer-reviewed journal on big data launching in Fall 2012
7. NineSigma Launches NineSights, the Worlds First Open Innovation Social Media Destination for Innovation Seekers and Solution Providers
8. MindSpec launches online Autism Reading Room
9. Launch of IMPACT World+
10. Wiley-Blackwell launches new open-access journal: Food Science & Nutrition
11. New journal on disruptive science and technology launched by Mary Ann Liebert Inc. publishers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/23/2017)... N.Y. and ITHACA, N.Y. ... ) and Cornell University, a leader in dairy research, ... with bioinformatics designed to help reduce the chances that ... With the onset of this dairy project, Cornell University ... Consortium for Sequencing the Food Supply Chain, a food ...
(Date:5/16/2017)... --  Bridge Patient Portal , an enterprise patient ... Systems , an electronic medical record solutions developer ... a partnership to build an interface between the ... products, including Centricity Practice Solution (CPS), Centricity Business ... integrations will allow healthcare delivery networks using GE ...
(Date:4/18/2017)... Inc., a global expert in SoC-based imaging and computing solutions, has ... features the company,s hybrid codec technology. A demonstration utilizing TeraFaces ® ... be showcased during the upcoming Medtec Japan at Tokyo Big Sight ... Las Vegas Convention Center April 24-27. ... Click here for an image of the ...
Breaking Biology News(10 mins):
(Date:10/9/2017)... 2017  BioTech Holdings announced today identification and ... ProCell stem cell therapy prevents limb loss in ... demonstrated that treatment with ProCell resulted in more ... compared to standard bone marrow stem cell administration.  ... reduction of therapeutic effect.  ...
(Date:10/9/2017)... ... October 09, 2017 , ... The Giving Tree Wellness ... targeting the needs of consumers who are incorporating medical marijuana into their wellness ... Arizona. , As operators of two successful Valley dispensaries, The Giving Tree’s two ...
(Date:10/7/2017)... ... October 06, 2017 , ... ... its ProxiMeta™ Hi-C metagenome deconvolution product, featuring the first commercially available Hi-C ... software to perform Hi-C metagenome deconvolution using their own facilities, supplementing the ...
(Date:10/6/2017)... ... October 06, 2017 , ... On Tuesday, October 24th, ABC² ... the first-ever adaptive clinical trial for glioblastoma (GBM). The featured speaker will be ... and open to the public, but registration is required. , WHAT: ABC² ...
Breaking Biology Technology: