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 o
'/>"/>

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


Page: 1 2

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:3/31/2015)... -- Elephant Talk Communications Corp. (NYSE MKT: ETAK) ("Elephant Talk" ... Network Architecture (ET Software DNA® 2.0) platforms and cyber ... million for the year ended December 31, 2014 as ... ended December 31, 2013. At the ... multi-year transition away from its legacy landline business to ...
(Date:3/24/2015)... , Mar. 24, 2015 Research and Markets ... and Voice Biometrics - Global Strategic Business Report" report to ... Face and Voice Biometrics in US$ Thousands by the following Segments: ... for the US, Canada , Japan ... , Middle East & Africa ...
(Date:3/23/2015)... -- In the 2014 fiscal year, irs.gov recorded over $100 ... accounts for a fraction of the estimated losses for ... $11 billion globally. The polygraph has traditionally been used ... Investor Mark Saint Juste along with former ... partnered to administer the test in a new way: ...
Breaking Biology News(10 mins):Elephant Talk Reports 2014 Fourth Quarter and Year End Financial Results 2Elephant Talk Reports 2014 Fourth Quarter and Year End Financial Results 3Elephant Talk Reports 2014 Fourth Quarter and Year End Financial Results 4Elephant Talk Reports 2014 Fourth Quarter and Year End Financial Results 5Elephant Talk Reports 2014 Fourth Quarter and Year End Financial Results 6Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 2Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 3Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 4Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 5Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 6Polygraph Test Now Used to Protect Investors From Fraud 2Polygraph Test Now Used to Protect Investors From Fraud 3
... May 1, 2009 Signal Hill, CA ... firm that helps organizations make sustainable transformations, has ... change communication programs required to encourage sustainable behaviors ... , The paper, entitled "A Turning Point in ...
... miss your daily cup of coffee and subsequently ... consumers of coffee and other caffeinated products, caffeine ... feeling less alert, less energetic and experiencing difficulty ... of Medicine and Johns Hopkins School of Medicine ...
... 2009) For the first time, scientists have discovered ... and dissections as well as early onset coronary artery ... led by scientists at The University of Texas Health ... Smooth Muscle Alpha-Actin (ACTA2) Cause Early Onset Coronary Artery ...
Cached Biology News:Your brain on -- and off -- caffeine 2Single gene defect can cause stroke, other artery diseases 2Single gene defect can cause stroke, other artery diseases 3
(Date:4/16/2015)... ON , April 16, 2015 /CNW/ - Bioenterprise Corporation ... its newest office in Charlottetown , ... the Prince Edward Island ADAPT Council for the commercialization ... looking forward to working with PEI ADAPT.  They have ... for more than a decade," explains Dave Smardon ...
(Date:4/16/2015)...  Scientists from Cleave Biosciences will be participating in ... the American Association for Cancer Research Annual Meeting 2015 ... April 19, 2015 from 3:15pm to 5:15pm ET. ... present new in vivo and mechanism of action study ... a critical enzyme that controls various aspects of protein ...
(Date:4/16/2015)... and MENLO PARK, Calif. , ... (OTCQX: DMPI) (DelMar and the Company), a biopharmaceutical company ... new orphan drug indications, today announced that the ... a clinical trial site for the ongoing, multicenter Phase ... multiforme (GBM), the most common and deadly form of ...
(Date:4/16/2015)... April 16, 2015 Modality Solutions, ... systems for highly regulated industries, is pleased to ... a monthly columnist for Cold Chain IQ - ... ). His column titled, Global Cold Chain Connections, ... for today’s life sciences, pharmaceutical and healthcare supply ...
Breaking Biology Technology:Bioenterprise Corporation Expands into the Maritimes 2Cleave Biosciences to Participate in Special Session "New Drugs on the Horizon" at AACR Annual Meeting 2015 2Cleave Biosciences to Participate in Special Session "New Drugs on the Horizon" at AACR Annual Meeting 2015 3DelMar Pharmaceuticals Adds Fourth Clinical Trial Site in Phase I/II Multicenter Study of VAL-083 for Recurrent Malignant Glioma 2DelMar Pharmaceuticals Adds Fourth Clinical Trial Site in Phase I/II Multicenter Study of VAL-083 for Recurrent Malignant Glioma 3DelMar Pharmaceuticals Adds Fourth Clinical Trial Site in Phase I/II Multicenter Study of VAL-083 for Recurrent Malignant Glioma 4DelMar Pharmaceuticals Adds Fourth Clinical Trial Site in Phase I/II Multicenter Study of VAL-083 for Recurrent Malignant Glioma 5Modality Solutions Gary Hutchinson Named Columnist for Cold Chain IQ 2Modality Solutions Gary Hutchinson Named Columnist for Cold Chain IQ 3
... BioPharma Corp. (TSX, FSE: "HBP") today announced that John ... the BioFinance 2009 Investor Conference at 3:00 p.m. EDT ... Toronto. Mr. Docherty will provide an overview of ... its current product development programs, L-DOS47 and Topical Interferon ...
... Medical Corp (TSX: MS), a leading developer in the treatment of multiple ... present at BioFinance 2009 in Toronto., WHEN: Wednesday ... Eaton Centre Hotel (Trinity V room), ... Toronto, ON, About BioFinance ...
... Ltd, announced,today that it has been engaged by ... in,divesting its world class research centre, the IRBM, ... pharmaceutical,transactions experience in the healthcare and investment business ... and biological,discovery centre. IRBM has an outstanding record ...
Cached Biology Technology:Helix BioPharma to Present at the BioFinance 2009 Conference 2BioMS Medical to present at BioFinance 2009 2Merck Engages PharmaVentures to Assist in the Divestment of its Italian Research Centre IRBM 2
... Two-Color RNA Spike-In Kit contains in vitro ... to complementary control probes on Agilents microarrays, ... serve as a positive microarray control in ... This kit is a required component of ...
... human adult normal Mega Western Protein Array ... The Mega Western Protein Arrays are manufactured ... documented tissue sources. A protein sample from ... along with a Protein molecular weight marker ...
... For applications not requiring confocal, the ... alternative to the Pathway 435. And, the ... if later applications require it. ... can elect to use the laser autofocus, ...
fully automated system for the processing of microarrays on microscope slides...
Biology Products: