Navigation Links
New Map of Genomic Variation Will Enable Disease Research
Date:7/15/2009

what this CNV data and other similar resources allow us to do," Shaikh added.

As an example of the clinical usefulness of their database, the authors analyzed DNA from a child with multiple congenital problems, including developmental delay and brain malformations. They found 35 CNVs, of which 32 were previously detected in healthy controls. Two of the patient's three unique CNVs were relatively small in size, but the third CNV was a deletion in chromosome 17 that encompassed 51 genes, including several that are active in early prenatal development. Unlike most of the other CNVs, it did not occur in the child's parents, strongly supporting the conclusion that the chromosome deletion arose spontaneously in the patient and that it caused the child's disease.

To detect CNVs in the thousands of samples, the investigators used highly automated gene-analyzing technology at the Center for Applied Genomics at Children's Hospital, directed by Hakon Hakonarson, M.D., Ph.D., a co-leader of this study. "Although these CNVs were detected in healthy children, they may have significant disease implications that may not manifest until later in life," said Hakonarson. Earlier this year, Hakonarson and colleagues published groundbreaking studies of CNVs in autistic spectrum disorders and attention-deficit hyperactivity disorder. Both studies found CNVs in gene regions involved in neurological development during early childhood.

The new database has another strength, added Shaikh. Because it analyzed large numbers of samples from both Caucasians and African Americans, it measured CNV levels that differ between the two ethnic groups, and enables clinicians to make more precise diagnoses. Shaikh added that the researchers expect to expand the database with larger sample sizes and data from additional ethnic populations.

In addition to its use in diagnosis, said White, the database may also assist researc
'/>"/>

SOURCE The Children's Hospital of Philadelphia
Copyright©2009 PR Newswire.
All rights reserved

Page: 1 2 3 4

Related medicine news :

1. Mayo Genomic Discovery: Protecting Kidney Function During Heart Failure
2. Lethality of H1N1 Influenza Virus Increasing According to Latest Replikin Analysis of Virus Peptide Genomic Data
3. NeoGenomics to Present at Noble Financials 5th Annual Equity Conference on Monday, June 8th
4. Ingenuity and Integromics Offer Integration for Comprehensive Genomics Analysis
5. Falcon Genomics Awarded Patent for Innovative Cancer Test
6. Genomics for a Greener World
7. Genomic Health to Present Multiple New Studies at the American Society of Clinical Oncology Annual Meeting
8. Genomic Healths Oncotype DX(R) Colon Cancer Test Predicts Individualized Recurrence Risk for Stage II Colon Cancer Patients
9. Genomic Health to Present at JMP Securities Research Conference
10. Video: Turning Hope Into Reality - Genomics Research at the VA
11. Genomic Health to Announce First Quarter 2009 Financial Results and Host Conference Call on Tuesday, May 5, 2009
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/17/2014)... (PRWEB) September 17, 2014 Mercy “topped ... hoisting the building’s final beam into place. Sister of ... made its ascent. (Photos and video of the event, ... beam, available here: http://bit.ly/MercyVirtual .) , “The topping ... quality medical care to thousands of patients regardless of ...
(Date:9/17/2014)... September 17, 2014 In a country ... stress on a regular basis, how can Americans find ... the Hyland’s Stress Challenge , a 5-day interactive ... balanced, stress-free life. From September 29th – October ... and content relating to specific topics that promote natural ...
(Date:9/17/2014)... September 17, 2014 Ticket Down ... tickets for all tour dates. The Disney on ... characters around the United States and across the world to ... year, the 2013 cult-hit Frozen will be showcased in the ... shows, Frozen on Ice. The show will kicked off at ...
(Date:9/17/2014)... HealthDay Reporter WEDNESDAY, Sept. 17, 2014 ... made good on their pledge to cut calories in their ... together through the Healthy Weight Commitment Foundation, pledged to remove ... and 1.5 trillion by 2015. They,ve actually reduced far more: ... pledge and exceeded their pledge," said lead researcher Shu Wen ...
(Date:9/17/2014)... New Rochelle, NY, September 17, 2014Diffusion Tensor Imaging ... that detects microstructural changes in brain tissue, can ... clinical outcomes following mild traumatic brain injury compared ... (CT), according to a new study published in ... from Mary Ann Liebert, Inc., publishers . ...
Breaking Medicine News(10 mins):Health News:Mercy Tops Out World's First Virtual Care Center 2Health News:Stress Less with the Hyland's 5-Day Stress Challenge 2Health News:Frozen on Ice Tickets: Ticket Down Slashes Ticket Prices in Atlanta, Uniondale, Richmond, Philadelphia, Hershey, Nashville, Hampton, Brooklyn, Chicago, Boston & St. Louis 2Health News:Major U.S. Food Makers Cut 6.4 Trillion Calories From Products: Report 2Health News:Major U.S. Food Makers Cut 6.4 Trillion Calories From Products: Report 3Health News:New MRI technique helps clinicians better predict outcomes following mild traumatic brain injury 2
... pediatric dermatologist explains prevalence of winter diaper rash and predicts ... COLLEGEVILLE, Pa., Dec. 2 /PRNewswire/ -- ... babies, the winter months can mean cute little red outfits, ... red bottoms. Most don,t think about their baby,s skin health ...
... Costs as Key , , WASHINGTON, ... Excellence report looks at how states are balancing retiree health care ... , Retiree Health Care in the American States ... care benefits to central human resources (HR) goals; how the states ...
... announced today the publication of Reproductive Health Matters ... abortion: women,s health and public policy". Second trimester ... burden on providers of service delivery and the sometimes ... issue of Reproductive Health Matters grew out ...
... N.J., Dec. 2 /PRNewswire-FirstCall/ - NUCRYST Pharmaceuticals Corp., ... fight infection and inflammation, announced today that its ... shareholder, The Westaim Corporation ("Westaim"), a requisition to ... a return of capital of US$0.80 per share ...
... Living Improves Service and Efficiency by Automating Access Management ... , FRAMINGHAM, Mass., Dec. 2 ... today announced that Brookdale Senior Living, the nation,s largest ... Courion,s Enterprise Provisioning Suite to deliver and manage secure ...
... Ind., Dec. 2 A number of recent public ... risks in,overweight children, and the questionable nutritional value of ... -- Funky Monkey(TM) Snacks,-- offers all natural, freeze-dried real ... kids, but also provide most, if not all, of ...
Cached Medicine News:Health News:Photos: Heads Up, Parents: Get to the Bottom of Winter Diaper Rash 2Health News:Photos: Heads Up, Parents: Get to the Bottom of Winter Diaper Rash 3Health News:Photos: Heads Up, Parents: Get to the Bottom of Winter Diaper Rash 4Health News:States View Limits on Retiree Health Benefits 2Health News:Elsevier announces the 2008 supplement of Reproductive Health Matters 2Health News:NUCRYST Receives Requisition to Call a Special Meeting of Shareholders From Majority Shareholder 2Health News:NUCRYST Receives Requisition to Call a Special Meeting of Shareholders From Majority Shareholder 3Health News:Courion Helps Reduce Costs at Nation's Largest Operator of Senior Living Communities 2Health News:Courion Helps Reduce Costs at Nation's Largest Operator of Senior Living Communities 3Health News:Moms Find Fun, Healthy Snacks That Help Fight Childhood Obesity 2Health News:Moms Find Fun, Healthy Snacks That Help Fight Childhood Obesity 3
(Date:9/17/2014)... -- Fortune Oil and Gas, Inc. (OTCPink:FOGC), today announced that ... Inc. with the symbol (OTCPink : FOGCD). FINRA approved ... Also taking effect today is a ten for 1 ... event in the company,s progress according to CEO, ... proceed with the plan and still have any level ...
(Date:9/17/2014)... , Sept. 17, 2014  Soligenix, Inc. ... biopharmaceutical company developing products that address unmet medical ... biodefense, announced today that agreement has been reached ... on the design of a pivotal, Phase 3 ... for the treatment of cutaneous T-cell lymphoma (CTCL).  ...
(Date:9/16/2014)... , 17 settembre 2014 Hologic, Inc. ... il lancio in Europa del Tomcat, un nuovo ... una piattaforma multifunzionale completamente automatizzata, progettata per semplificare ... ed i rischi di errore legati alla gestione ... strumento Tomcat di Hologic riduce il carico di ...
Breaking Medicine Technology:Fortune Oil and Gas, Inc. announces 1 for 10 reverse split along with a name change to Manzo Pharmaceuticals is now effective 2Fortune Oil and Gas, Inc. announces 1 for 10 reverse split along with a name change to Manzo Pharmaceuticals is now effective 3Soligenix Announces FDA Clearance of Phase 3 Clinical Protocol of SGX301 in Cutaneous T-Cell Lymphoma 2Soligenix Announces FDA Clearance of Phase 3 Clinical Protocol of SGX301 in Cutaneous T-Cell Lymphoma 3Soligenix Announces FDA Clearance of Phase 3 Clinical Protocol of SGX301 in Cutaneous T-Cell Lymphoma 4Soligenix Announces FDA Clearance of Phase 3 Clinical Protocol of SGX301 in Cutaneous T-Cell Lymphoma 5Soligenix Announces FDA Clearance of Phase 3 Clinical Protocol of SGX301 in Cutaneous T-Cell Lymphoma 6Soligenix Announces FDA Clearance of Phase 3 Clinical Protocol of SGX301 in Cutaneous T-Cell Lymphoma 7Hologic annuncia il lancio dello strumento preanalitico Tomcat in Europa 2Hologic annuncia il lancio dello strumento preanalitico Tomcat in Europa 3
... Reportlinker.com announces that a new market research report is ... http://www.reportlinker.com/p0484924/Epidemiology-Lupus.html In ... cases of systemic lupus erythematosus (SLE) in the seven ... women between 45 and 64 years of age. The ...
... NEW YORK, April 26, 2011 Reportlinker.com announces that ... catalogue: Epidemiology: Prostate Cancer ... period, prostate cancer incident cases will increase in all ... likely to be as a result of an aging ...
Cached Medicine Technology:Reportlinker Adds Epidemiology: Lupus 2Reportlinker Adds Epidemiology: Prostate Cancer 2
This high technology cast plaster cutter saw is very easy and comfortable to use....
De Soutter supply clean cast removal saws that are low in voltage and contain an integrated extractor system, combining state-of-the-art ergonomics with performance and durability....
The Orengo staple is an oval staple, with thicker and longer legs (25 mm). It is then more especially bound to be used onto thick bones. The design of its stapler makes it more difficult to use und...
... VersaBond is a medium viscosity bone cement ... and shoulder implant fixation. VersaBond has superior ... for vacuum mixing, but can also be ... powder clumping. VersaBond meets customer needs by ...
Medicine Products: