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:1/22/2015)... 2015 Blue Cross and Blue Shield of ... what it means to “Live Fearless.” , The ... share their stories about how they or someone they know ... by living in the moment. By telling these types of ...
(Date:1/22/2015)... Thousand of GranuFlo lawsuits ( http://www.granuflolawsuit2014.com/ ... GranuFlo and NaturaLyte dialysis concentrates continue to move forward ... Court, District of Massachusetts, Bernstein Liebhard LLP reports. According ... remanded a case filed by the state of Louisiana ...
(Date:1/22/2015)... January 22, 2015 A study ... Medicine flagship journal Medicine & Science in Sports ... exercise may help reduce gastrointestinal (GI) problems associated ... , Participants in the double-blind, placebo-controlled study took ...
(Date:1/22/2015)... DC (PRWEB) January 22, 2015 Payday ... in vulnerable communities and cause financial distress to the ... by analysts at Howard University’s Center on Race and ... dollars in economic activity, payday loans at the same ...
(Date:1/22/2015)... a new blog post explaining the importance of keeping a first ... an auto insurance policy . , Clients who driver safer ... vehicle insurance policies. The safety a vehicle offers from its driver ... this, drivers should always carry a first aid kit in their ...
Breaking Medicine News(10 mins):Health News:Blue Cross and Blue Shield of Minnesota to Showcase “Faces of Fearless” 2Health News:Court Overseeing Federal GranuFlo Lawsuits Remands Louisiana Claim Back to State Court, Bernstein Liebhard LLP Reports 2Health News:Court Overseeing Federal GranuFlo Lawsuits Remands Louisiana Claim Back to State Court, Bernstein Liebhard LLP Reports 3Health News:Court Overseeing Federal GranuFlo Lawsuits Remands Louisiana Claim Back to State Court, Bernstein Liebhard LLP Reports 4Health News:Study Shows Kyowa Hakko’s L-Citrulline May Help Reduce Gastrointestinal Injury During Strenuous Exercise 2Health News:Study Shows Kyowa Hakko’s L-Citrulline May Help Reduce Gastrointestinal Injury During Strenuous Exercise 3Health News:Howard University Spotlights the Economic Impact of Payday Lending in Southern States 2Health News:Driving Safe And Other Factors That Make Auto Insurance Affordable! 2
... who are overweight or obese when diagnosed with prostate cancer ... a new study in the December 15, 2007 issue of ... study, by Dr. Jason Efstathiou from Massachusetts General Hospital ... index (BMI) at the time of cancer diagnosis was an ...
... seems but the federal government,s preparedness has been limited ... other hand, local organizations often do not have the ... state support must now be given to programs that ... prepare for and respond to all disasters. That is ...
... (PHILADELPHIA) An immune system messenger molecule that normally helps ... multiple sclerosis (MS). Neurology researchers led by Abdolmohamad ... Department of Neurology at Jefferson Medical College of ... Neuroscience in Philadelphia, have found that the protein ...
... ease addiction , SUNDAY, Nov. 11 (HealthDay News) -- ... rewards, U.S. researchers report. , A team at the ... activity in 18 cocaine addicts and 18 age-matched healthy ... cap of electrodes that measured brain activity as they ...
... N.C. New research provides clues about the causes ... strategies, according to Nilamadham Mishra, M.D., from Wake Forest ... the American College of Rheumatology in Boston. , The ... well as accelerated cell death that seems to be ...
... ... Effort latest in long K of C tradition of helping military and vets since ... World War I, NEW ... wheelchairs to veterans,in need at four locations on Veterans Day weekend, Nov. 9 and 10,continuing a ...
Cached Medicine News:Health News:Obesity and overweight linked to higher prostate cancer mortality 2Health News:Emergency response 2Health News:Jefferson neuroscientists show anti-inflammation molecule helps fight MS-like disease 2Health News:Cocaine Use Dulls Brain's Sensitivity to Rewards 2Health News:Research suggests targeted treatment strategies for lupus 2Health News:Knights Distribute $1 Million Worth of Wheelchairs to Veterans 2
(Date:1/23/2015)... all-time hits leader, is the new spokesperson for the topical ... announced. "Pete,s a Hall of Famer in our ... with Myoflex," said Ducere Pharma Chief Executive Officer Chris ... across all generations. The passion and intensity that Pete brought ...
(Date:1/23/2015)... Cord Blood America, Inc. ( www.cordblood-america.com ) (OTC Bulletin Board: ... Preliminary Proxy Statement, Schedule 14A, with the U.S. Securities & ... for shareholders detailing why a "YES" vote to increase the ... As we reflect upon the 2014 fiscal year ...
(Date:1/23/2015)... BOSTON , January 23, 2015 Heptares ... is delighted to announce that the Malcolm Campbell ... Congreve (Vice President of Chemistry), Fiona Marshall ... (Chief Executive Officer and co-founder) for the seminal contributions to ...
Breaking Medicine Technology:Pete Rose bets on Myoflex to relieve aches and pains 2Cord Blood America Announces Preliminary Proxy Filing and Details Why a "YES" Vote to Increase Authorized Shares Is Requested 2Cord Blood America Announces Preliminary Proxy Filing and Details Why a "YES" Vote to Increase Authorized Shares Is Requested 3Cord Blood America Announces Preliminary Proxy Filing and Details Why a "YES" Vote to Increase Authorized Shares Is Requested 4Heptares Scientists to Receive the Malcolm Campbell Memorial Prize for 2015 in Recognition of Their Outstanding Contribution to GPCR Drug Discovery 2Heptares Scientists to Receive the Malcolm Campbell Memorial Prize for 2015 in Recognition of Their Outstanding Contribution to GPCR Drug Discovery 3Heptares Scientists to Receive the Malcolm Campbell Memorial Prize for 2015 in Recognition of Their Outstanding Contribution to GPCR Drug Discovery 4
... Endologix, Inc. (Nasdaq: ELGX ), developer ... that John McDermott, President and Chief Executive Officer, is ... Merrill Lynch Health Care Conference in Las Vegas, NV.Event:2011 ... 10, 2011Time:3:40 p.m. PTAn audio Web cast of the ...
... The Female Health Company (NASDAQ-CM: FHCO) today announced that ... (Semina), was successful in a public tender to supply ... 20 million FC2 Female Condoms.  The contract is valid ... be determined at the Ministry of Health,s discretion. ...
Cached Medicine Technology:The Female Health Company's Brazilian Distributor, Semina, Awarded Contract For Up To 20 Million FC2 Female Condoms 2The Female Health Company's Brazilian Distributor, Semina, Awarded Contract For Up To 20 Million FC2 Female Condoms 3
... Hall® Surgical E9000® System is a ... electric handpieces specifically designed for use ... Surgery. The E9000 System consists of ... 3 specialized handpieces designed to provide ...
... 1000 Power Instrument System is a ... versatility and convenience with modular and ... without hand throttle, for use with ... pedal. Accepts all 1000 and 2000 ...
... 2002 Battery Charger is manufactured to charge System ... Charger can charge up to four Battery Packs ... Charger is designed to operate on 120 volt ... malfunction in the operation of the Charger do ...
... first contact the diamond shaped teeth set the blade ... Because the teeth are very sharp, and the cut ... bone is cut with minimal force due to the ... , ,The troughs between ...
Medicine Products: