Navigation Links
As New Data Wave Begins, a Gene Study in One Disease Discovers Mutations in an Unrelated Disease
Date:7/20/2011

PHILADELPHIA, July 20, 2011 /PRNewswire-USNewswire/ -- Often enough, in science as in life, unexpected knowledge has a personal impact. Researchers seeking rare gene variants in just a few individuals with attention-deficit hyperactivity disorder (ADHD) discovered that one patient had a novel combination of two mutations. Those mutations caused a different disease, unrelated to ADHD -- a blood disorder called idiopathic hemolytic anemia.

Although the man had long contended with the blood disease, "idiopathic" meant that physicians were unable to determine the cause of his particular anemia—until now, say authors of a new study.

As gene-sequencing costs continue to drop as a result of new technology, the authors predict "a coming wave of unrelated findings and the resolution of 'idiopathic' diseases." In its wake will be new ethical and clinical implications -- such as how and when to best share these findings with people who provide their own DNA for the research.

Rapid improvements in analytical tools are enabling researchers to more frequently sequence whole genomes of individual patients, said study leader Gholson J. Lyon, M.D., Ph.D., a psychiatrist and principal investigator in the Center for Applied Genomics at The Children's Hospital of Philadelphia. "As we sequence whole genomes, we will find new mutations unrelated to the disease under investigation," he added. "How do we handle this information, especially when it doesn't lend itself to immediate action by a patient and physician? This is an issue that is coming to the forefront with current advances in genetic knowledge."

Lyon, and co-corresponding author Kai Wang, Ph.D., published the study online July 15 in the journal Discovery Medicine. (Formerly at The Children's Hospital of Philadelphia, Wang is now at the University of Southern California.)

In the current study, Lyon and colleagues performed genetic analysis in a Utah family in which a father and
'/>"/>

SOURCE The Children's Hospital of Philadelphia
Copyright©2010 PR Newswire.
All rights reserved

Page: 1 2 3 4

Related biology technology :

1. Convergence Pharmaceuticals Announces Start of Phase II Study for its Selective Nav 1.7 blocker CNV1014802
2. Cadmium selenide quantum dots degrade in soil, releasing their toxic guts, study finds
3. Diesel fumes pose risk to heart as well as lungs, study shows
4. Narrowest bridges of gold are also the strongest, study finds
5. Chimerix Commences Phase 2 Clinical Study of CMX001 for Prevention of Adenovirus Disease in Pediatric and Adult Hematopoietic Stem Cell Transplant Patients
6. University of Dayton Study Overturns 250-Year-Old Belief About Effects of Age, Repeated Injury on Tissue Regeneration
7. InterMune Initiates Phase 3 ASCEND Study of Pirfenidone in IPF
8. Inovio Pharmaceuticals DNA Vaccine for Foot-and-Mouth Disease Generates Protective Neutralizing Antibodies in Second Large-Animal Study
9. Intarcia Presents Positive Phase 2 48-week Results From ITCA 650 Study at the American Diabetes Association 71st Scientific Sessions
10. New study: Even in flies, enriched learning drives need for sleep
11. Positive Results from Phase IIa Study Pave Way for Phase IIb Trial of AC-201 for the Treatment of Type II Diabetes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/22/2015)...   GenoSpace , a precision medicine software company that has ... use of genomic, imaging and other biomedical data in research ... Munson , CEO of Aspera, an IBM Company, to its ... http://photos.prnewswire.com/prnh/20150122/170713 "We are pleased to welcome ...
(Date:12/25/2014)... December 25, 2014 The report “Service ... Product Type & Provider Type - Global Advancements, Worldwide ... with an in-depth analysis and forecasting of revenues. ... through 221 pages and in-depth TOC on “Service Quality ...
(Date:12/24/2014)... YORK , Dec. 24, 2014 PlasmaTech Biopharmaceuticals, Inc. ... critical areas, announced the closing of an underwritten public offering ... up to an aggregate 3,500,000 shares of common stock, at ... warrant.  The warrants have a per share exercise price of ...
(Date:12/24/2014)... , Dec. 24, 2014   BioLife Solutions , Inc. ... marketer of proprietary clinical grade hypothermic storage and ... products for cells and tissues  ("BioLife" or the "Company"), ... of Stockholders on May 4, 2015 (the "Annual Meeting"). ...
Breaking Biology Technology:GenoSpace Expands Board with Appointment of Michelle Munson 2Service Quality Management Market worth $2.1 Billion & Telco Customer Experience Management Market worth $2.3 Billion by 2019 – New Report by MarketsandMarkets 2Service Quality Management Market worth $2.1 Billion & Telco Customer Experience Management Market worth $2.3 Billion by 2019 – New Report by MarketsandMarkets 3Service Quality Management Market worth $2.1 Billion & Telco Customer Experience Management Market worth $2.3 Billion by 2019 – New Report by MarketsandMarkets 4PlasmaTech Biopharmaceuticals, Inc. Announces Closing of Public Offering 2PlasmaTech Biopharmaceuticals, Inc. Announces Closing of Public Offering 3BioLife Solutions Sets Date for Annual Meeting of Stockholders 2
... , , , , ... of purifying amplicons as small as 100bp. AMPure yields high quality PCR , ... or filtration steps. The protocol can be easily automated or performed , ... , EFFICIENT PCR PURIFICATION ...
... , , , , Here are some troubleshooting hints that we have gathered , ... , , , , ... <a , href="#Option4">Primer annealing temperature is too low ... , , ...
... , , , , , , ... PCR primers , that are specific for that mRNA sequence. The ... of cDNA and an amplified , product derived from contaminating genomic ... (see figure below). , , , , , ...
Cached Biology Technology:AMPURE PURIFICATION SYSTEM 2AMPURE PURIFICATION SYSTEM 3Trouble-shooting: Smeared bands 2Trouble-shooting: Smeared bands 3Trouble-shooting: Smeared bands 4Trouble-shooting: Smeared bands 5
(Date:12/22/2014)...  The 2014 Holiday Season may be the brightest ever ... that the long anticipated floodgates for consumer biometrics may ... smart phones, tablets, and wearable mobile devices that incorporate ... users with nearly 4.8 billion biometric devices by 2020.   ...
(Date:12/19/2014)... VEGAS , Dec. 18, 2014   LaunchKey , ... for the post-password and Internet of Things era, today ... funding. The venture round was led by Metamorphic Ventures ... Rimrock Venture Partners, VegasTechFund, and others.  LaunchKey has raised ...
(Date:12/17/2014)... , Dec. 16, 2014 Valencell, a leader ... PerformTek biometric technology to industry leaders such as Intel, ... clinically validated, biometric wearable products. These products will be ... Las Vegas . ...
Breaking Biology News(10 mins):First Season of Holiday Shopping with Mobile Biometric Payments Wraps Up With a Present for Biometrics Industry: A Rosy Forecast for More Than 2 Billion Users of 4.8 Billion Mobile Biometric Devices by 2020 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 3Valencell PerformTek Biometrics Power the Most Accurate Wearables at CES 2015 2
... variety of canary seeds bred specifically for human consumption qualifies ... with celiac disease (CD), scientists have confirmed in a study ... . Joyce Irene Boye and colleagues point out ... alone have CD. They develop gastrointestinal and other symptoms from ...
... A Cornell University study offers further proof that the divergence ... years ago was profoundly influenced by mutations to DNA sequences ... The study, published June 9 in Nature Genetics , ... must play an important role in evolution since there is ...
... June 19, 2013 Elsevier, a world-leading provider of scientific, ... announce the launch of a new open access journal, ... , Elsevier,s earth and planetary science journals portfolio has its ... a forum for rapid publication of top research within the ...
Cached Biology News:New research backs theory that genetic 'switches' play big role in human evolution 2New research backs theory that genetic 'switches' play big role in human evolution 3
Functionally tested for consistent G-banding of chromosomes....
... optimized for serum-free growth of Ready-Plaque Sf9 ... medium, Sf9 cultures routinely reach densities greater ... above 95%. This medium is also recommended ... staining of pBACgus recombinants develops faster than ...
... is formuatled for the growth of ... Sf21 cells. Grace's Insect Mediu, Unsupplemented ... does not contain lactalbumin hydrosylate, and ... Grace's Insect Medium, Supplemented is formulated ...
TNM-FH Insect Medium 1 liter...
Biology Products: