Navigation Links
Whole DNA sequencing reveals mutations, new gene for blinding disease
Date:9/22/2013

BOSTON -- Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and novel RP genes involve the screening of DNA coding sequences.

In a paper in the Proceedings of the National Academy of Sciences, researchers from the Massachusetts Eye and Ear, Harvard Medical School, the University of Lausanne, Switzerland, and others tested DNA with the use of whole genome sequencing, a technique that takes into account all variants from both the coding and noncoding regions of the human genome. With this approach the authors report a number of unique RP mutations, a previously undescribed disease gene called NEK2 that involves the retinal photoreceptors, and structural DNA rearrangements originating in introns.

This paper supports the advantages of the use of whole genome sequencing to search for mutations in patients with RP.

The researchers performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants, the authors wrote. Eight patients were from North America, whereas eight were Japanese, a population for which ARRP seems to have different genetic drivers.

Using a specific work flow, they assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures. They detected homozygous or compound het erozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans. Fourteen of the 16 mutant alleles identified were previously unknown. Among these, there was a 2.3
'/>"/>

Contact: Mary Leach
Mary_Leach@meei.harvard.edu
617-573-4170
Massachusetts Eye and Ear Infirmary
Source:Eurekalert

Page: 1 2

Related medicine news :

1. Mayo Clinic launches whole genome breast cancer study
2. Kidney cancer patients do better when whole kidney is not removed, U-M study shows
3. Low-dose whole-body CT finds disease missed on standard imaging for patients with multiple myeloma
4. Highly targeted irradiation as good as whole breast radiotherapy in early stage cancer
5. Beef & Pork Wholesaling in the US Industry Market Research Report Now Available from IBISWorld
6. Treating the whole person with autism
7. Treating the whole person with autism sets direction for parent-clinician collaboration
8. Whole-genome scan helps select best treatment for childhood cancer
9. Rebuilding a whole heart for children born with only half of 1
10. Benefit6 Whole Body Protection, a New Product by I Do Strive LLC, Provides Maximum Antioxidant Protection
11. Benefit6 Whole Body Protection, a New Product by I Do Strive LLC, Provides Increased Energy Production According to Recent Studies
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/25/2014)... When head lice hits a home or school, parents and ... of it while keeping it from taking over the house ... solution right in their neighborhood: Lice Troopers . Expanding ... spectrum head lice screening and treatment services to families and ... Brickell, Coconut Grove, Kendall, Pinecrest and South Miami. , The ...
(Date:12/25/2014)... 25, 2014 (HealthDay News) -- The risk of burns ... so you need to be extra cautious, an expert ... see a significant increase in patients coming in with ... Suffolk County Volunteer Firefighters Burn Center of Stony Brook ... be full of joy, but if not careful, could ...
(Date:12/25/2014)... HealthDay Reporter WEDNESDAY, Dec. 24, ... a "fountain of youth" drug that can delay the effects ... new study suggests. Seniors received a significant boost to ... genetic signaling pathway linked to aging and immune function, researchers ... experimental medication, a version of the drug rapamycin, improved the ...
(Date:12/25/2014)... (PRWEB) December 25, 2014 “ SmileStix ” ... which features the latest and coolest mobile applications on the ... expert and host of NewsWatch, conducted the app review and ... to create personal stickers. , The old saying goes, “A ... lot of words that can describe a single image, because ...
(Date:12/25/2014)... 2014 Each year trauma accounts for ... hospital admissions across the nation (according to the ... CDC’s National Hospital Ambulatory Medical Care Survey collected ... in 2010. They estimated that there were between 3.5 ... a primary diagnosis of broken bone or fracture. ...
Breaking Medicine News(10 mins):Health News:Coral Gables Florida Gets Ready to Be Lice-Free with Lice Troopers 2Health News:Don't Let Burns Mar Your Holidays 2Health News:Researchers Take 'First Baby Step' Toward Anti-Aging Drug 2Health News:Researchers Take 'First Baby Step' Toward Anti-Aging Drug 3Health News:An Application to Create Custom Stickers was Featured on NewsWatch Television on December 19, 2014 2Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 2Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 3Health News:Every Year Four Million Emergency Department Visits Result from Accidents Involving Bone Trauma 4
... Internet access could reduce frustration, researchers say , SATURDAY, May ... say they would like to be able to communicate with ... , Yet fewer than 15 percent of those said they ... vaccinations or lab record retrievals, to complete screening forms, to ...
... ... of SmarterTools software to Windows dedicated server & Windows VPS (virtual private server) hosting ... server, SmarterTrack customer service software and SmarterStats Web log analytics and SEO software. It ... ...
... ... ... LoveToKnow, Inc. has launched a new Web site channel that will provide helpful information and ... campaign to help people with these issues, the company said it would make a donation ...
... ... to offer Laser Hair Removal, Botox and Dermal Fillers and Anti Aging Skin Care Treatments and ... (PRWEB) May 22, 2010 ... new location in Lancaster, PA offers their full line of Medical Aesthetic products and services. They ...
... ... in Boston by honoring 25 leaders whose contributions to the fight against AIDS over the ... ... New England’s largest AIDS service organization will hold the 25th AIDS Walk Boston ...
... 30 percent of Americans believe they have food allergies. However, ... according to a recent study commissioned by the National Institute ... part to the unreliability of the skin test that doctors ... engineer Christopher Love believes he has a better way to ...
Cached Medicine News:Health News:Parents Want Electronic Access to Their Childrens Docs: Survey 2Health News:Dedicate Server and VPS Hosting Provider Company HostRightNow Technologies Partners with SmarterTools Inc. 2Health News:LoveToKnow.com Launches Gluten Free Channel and Will Donate to National Foundation for Celiac Awareness 2Health News:LoveToKnow.com Launches Gluten Free Channel and Will Donate to National Foundation for Celiac Awareness 3Health News:Bella Medspa Opens Full Service Office in Lancaster, PA 2Health News:Bella Medspa Opens Full Service Office in Lancaster, PA 3Health News:25th AIDS Walk Boston to Take Place Sunday, June 6, 2010 2Health News:25th AIDS Walk Boston to Take Place Sunday, June 6, 2010 3Health News:25th AIDS Walk Boston to Take Place Sunday, June 6, 2010 4Health News:MIT researchers develop better way to detect food allergies 2Health News:MIT researchers develop better way to detect food allergies 3
(Date:12/24/2014)... 23, 2014  The American Diabetes Association is ... for people with diabetes and that all people ... of statins, in keeping with recent changes to ... American College of Cardiology (ACC) and American Heart ... most recent changes to the Association,s annual revised ...
(Date:12/24/2014)... , Dec. 23, 2014 In response to urgent ... of Sierra Leone , Direct Relief delivered ... for the treatment of local health workers who contract ... new dedicated Ebola care center was constructed for foreign health ... is not available for local Sierra Leonean health workers. ...
(Date:12/24/2014)... HILL, N.C. , Dec. 23, 2014  Medical ... success. As the key link between the medical device ... grow even more in the coming years as the ... According to research by benchmarking firm, ... MSLs can gain an important edge is by harnessing ...
Breaking Medicine Technology:New Standards of Care Provide Guidelines for Statin Use for People with Diabetes to Prevent Heart Disease 2New Standards of Care Provide Guidelines for Statin Use for People with Diabetes to Prevent Heart Disease 3New Standards of Care Provide Guidelines for Statin Use for People with Diabetes to Prevent Heart Disease 4First Ebola Treatment Unit for Local Health Workers Arrives in Sierra Leone 2Role of Medical Science Liaisons Evolving in Medical Device Sector 2
... Sept. 6, 2011 Hospira, Inc. (NYSE: ... injectable pharmaceuticals, today announced positive results from a Phase ... in patients with renal (kidney) dysfunction who have anemia. ... or blood level and distribution in the body, for ...
... published in the August issue of the Journal of Medical ... of Health Law & Executive Director, Institute of Health Law ... Tim Mackey, Senior Research Associate at IHLS and PhD Student ... Diego – San Diego State University, assess the global public ...
Cached Medicine Technology:Hospira Announces Positive Results From Phase I U.S. Clinical Trial of Biosimilar Erythropoietin in Renal Patients 2Hospira Announces Positive Results From Phase I U.S. Clinical Trial of Biosimilar Erythropoietin in Renal Patients 3JMIR Article by IHLS Authors Discusses Global Public Health Implications of Social Media Direct-to-Consumer Advertising by Illicit Online Pharmacies and Private Entities 2
... NCP-1, was designed to maximize patient comfort ... the first ever to feature Vacuum Pump ... augmentation and reduces the "slamming" effect commonly ... treatment platform maintains patients comfort and security ...
... The Arctic Sun 2000 represents a ... The Arctic Sun System rapidly induces mild ... from therapeutic hypothermia or rapidly reduces temperature ... monitors and maintains core body temperature in ...
... Artic Sun 100 monitors and controls patient ... hypothermia associated with surgery, trauma, or other ... response to feedback provided from a patient ... ambient (room air) and 42C (107.6F) to ...
... its professional AED offeringthe G3 Pro. ... ECG color display, provides manual override ... most advanced technology available to provide ... for emergency treatment of sudden cardiac ...
Medicine Products: