Navigation Links
Gene Sequencing Helps Twins With Rare Disorder
Date:6/15/2011

ovement in his fine-motor skills and focus at school, something he'd been struggling with.

Experts say the findings are among the first time that whole-genome sequencing has revealed information that physicians could immediately use to improve treatment -- something that may herald a new era of medicine.

"Up until this point, a lot of gene sequencing is basic science. We can determine which gene is involved, but the next step, developing the drug, isn't there yet," Bainbridge said. "This is what makes this study fairly unique in that it was medically actionable."

Other experts agree there is more to come. It was only in 2003 that the first whole-genome sequencing was completed -- the Human Genome Project, which was enormously expensive, according to Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City.

Subsequent sequencings cost between $1 million and $2 million. Today, the cost is about $10,000, said Kingsmore, who wrote an accompanying editorial.

Even newer, more targeted and less expensive technologies have the potential to bring down the cost to $5,000 or even lower, Kingsmore said, although as of now, those are not available outside of research institutions.

But if such lower-cost sequencing became available, it could lead to more accurate, faster diagnosis of the nearly 3,000 Mendelian diseases, or diseases caused by a mutation on a single gene, such as sickle cell anemia or cystic fibrosis, for which research has identified a known genetic cause.

Today, families often spend many stressful months and years visiting doctors and undergoing tests to figure out what's going on with their child.

Kingsmore said that for some of these diseases, whole-gene sequencing might help solve the "bottleneck" in terms of the inability to make a diagnosis -- or a diagnosis that takes so long that the child is very late in the disease before physicians figu
'/>"/>

Copyright©2010 ScoutNews,LLC.
All rights reserved  

Page: 1 2 3 4

Related medicine news :

1. Scripps Health Begins Pioneering Study of Human Tumor Sequencing in Cancer Patients
2. Johns Hopkins scientists develop personalized blood tests for cancer using whole genome sequencing
3. Gene Sequencing Yields Picture of Human Gut
4. Genome Sequencing Reveals How Breast Cancer Spreads
5. Genentech uses Complete Genomics human genome sequencing service to compare tumor and normal genome in patient with non-small cell lung cancer; results published in Nature
6. Whole genome sequencing used to help inform cancer therapy
7. Genome sequencing used to assess a novel form of Clostridium botulinum
8. Oxford Nanopore announces licence agreement with Harvard University for graphene DNA sequencing
9. mygenomatix: A secure cloud-like model for next-gen sequencing data analysis
10. Improving DNA sequencing: Sponge-like biosensor crams enormous power into tiny space
11. UNT Health Science Centers Roby Helps Identify Bodies of Chiles Patio 29
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Gene Sequencing Helps Twins With Rare Disorder 
(Date:10/20/2014)... JZ Fitness, an independently operated wellness ... programming, authorship, international lecturing and community wellness, created by ... release of the JZ Fitness nutrition app, available on ... thousands of individuals on nutrition, Jenn Zerling (“JZ”) has ... require calorie counting or cumbersome food logging. ...
(Date:10/20/2014)... Ohio (PRWEB) October 20, 2014 Principle ... years, takes pride in manufacturing top-of-the-line absorbent products. ... image of its most popular brand, Tranquility® Premium Protection ... created a new website, gave its packaging a new ... bring the brand message to the public. , The ...
(Date:10/20/2014)... 20, 2014 Myoderm ... Assistant Director of their CentralSource service. ... the innovative turnkey drug sourcing, distribution, and management ... over 12 years of industry experience, in both ... the peak of their international success to help ...
(Date:10/20/2014)... 2014 Succeed is proud to announce that ... participated in the Every Body Walk! campaign by ... project that encourages workers to be more active outside of ... which concluded at the end of September, was a friendly ... metro areas. Participating companies gave their staff pedometers and ...
(Date:10/20/2014)... National Teen Driver Safety Week is October 19-25, ... Pediatrics (Ohio AAP, http://www.ohioaap.org ) is joining the National ... drivers to talk to their teens and always set the ... are the leading cause of death for U.S. teens. In ... and 859 (42%) of those teen drivers were killed in ...
Breaking Medicine News(10 mins):Health News:JZ Fitness Nutrition App Launches on iTunes 2Health News:JZ Fitness Nutrition App Launches on iTunes 3Health News:Tranquility® Premium Protection Incontinence Products Releases New Logo and Website 2Health News:Myoderm Hires Matthew Voicheck to Lead Turnkey Drug Sourcing Service 2Health News:Succeed Management Solutions, LLC Competes in Walking Challenge and Achieves 12th Place in Portland 2Health News:Ohio AAP Promotes National Teen Driver Safety Week 2
... Trujillo, demanding urgent action to give priority to the installation ... ,Chair of the AMA’s Rural Reference Group (RRG), Dr ... series of complaints from rural doctors about poor and slow ... medical care for country Australians. ,Dr Rivett, a ...
... growth by certain chemicals in grape juice in both cell ... in other types of tumor have previously been proven by ... October 18 issue of Clinical Cancer Research. In this study, ... the animals. The molecular mechanism of the inhibition of cancer ...
... government researchers say the a new vaccine effective against the ... been developed//. This is likely to lead to formulation of ... may the jump into humans and turn ,just as deadly,feel ... off by unhygienic conditions and overcrowding, caused millions of deaths ...
... County leaders voted on Tuesday to beg the federal government ... Medical Center while they undertake// a drastic downsizing to save ... Supervisors has unanimously approved the reform plan for submission to ... planned to ask CMS to extend $200 million in funding ...
... a big challenge for law enforcement officials in Australia, and a ... lock-ups /arrests due to possession of ice have gone up by ... entire hullabaloo, scientists have not been able to ‘break the ice’ ... about the link between this drug and violent psychosis. , ...
... the Stanford University School of Medicine conducted a study ... ,According to the telephone-based study, at least ... 1-in-8 Americans. Earlier studies have showed that some type ... the population. ,"Our telephone survey suggests that ...
Cached Medicine News:Health News:Telstra Must Send Lifeline to Rural Doctor Landlines 2Health News:Inhibition of Colorectal tumor growth by Grape seed extract 2Health News:Inhibition of Colorectal tumor growth by Grape seed extract 3Health News:LA County gives Approval for Reform Plan for King-Drew Medical Center 2Health News:Internet – Boon or Bane 2Health News:Internet – Boon or Bane 3
(Date:10/20/2014)... VIEW, California , 20 de octubre de ... líder en el campo de la pulmonología intervencional, ... su Estudio RENEW, casi 3 meses antes de ... fundamental de exención de dispositivo de investigación (IDE) ... Medicamentos) para el sistema de espiral de reducción ...
(Date:10/20/2014)... Oct. 20, 2014 Valeritas, Inc., a leader ... patients with Type 2 diabetes, announced today that it ... Award. The award was presented October 16 th ... Columbus, Ohio . The Cardinal ... a variety of metrics specifically targeted at the importance ...
(Date:10/20/2014)... Oct. 20, 2014 Lpath, Inc. (NASDAQ: ... bioactive lipid-targeted therapeutics, received official notification from the European ... another key patent supporting its iSONEP™ and ASONEP™ ... European patent No. 2087002, claims compositions of matter ... two lead compounds, iSONEP and ASONEP. Sonepcizumab is ...
Breaking Medicine Technology:PneumRx concluye inscripción en prueba fundamental RENEW 2PneumRx concluye inscripción en prueba fundamental RENEW 3Valeritas Receives 2014 Cardinal Health Supply Chain Excellence Award 2Valeritas Receives 2014 Cardinal Health Supply Chain Excellence Award 3Lpath Granted Key European Patent Related to iSONEP and ASONEP Programs 2Lpath Granted Key European Patent Related to iSONEP and ASONEP Programs 3Lpath Granted Key European Patent Related to iSONEP and ASONEP Programs 4
... Company (Nasdaq: PRGO;TASE) today announced that Perrigo CFO Judy Brown ... 5, 2011 at 9:30 a.m. (IST) at the TASE Headquarters ... The day will include presentations on the Consumer Healthcare, ... and research and development. Perrigo Company is ...
... PARK, Calif., Oct. 4, 2011 CV Ingenuity, a ... a $16 million Series B round of financing led ... capital firm. Existing investors BioStar Ventures, Synergy Ventures and ... (CVI), which is focused on the development of a ...
Cached Medicine Technology:CV Ingenuity Announces Close of $16 Million Series B Financing Led by NEA 2
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
... Laboratories is a national reference laboratory and ... and development. ARUP offers an extensive test ... tests in clinical and anatomic pathology. Owned ... clients include more than half of the ...
Medicine Products: