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:5/28/2015)... Trends Investing ” was featured on NewsWatch as part of ... medium, and large businesses making an impact in their industry. ... the business review and shared with viewers how this website ... money. , The idea, “let your money work for you” ... how to succeed are two different things. So if ...
(Date:5/28/2015)... 2015 More than 300 locations of ... money to help the Muscular Dystrophy Association save and ... related life-threatening diseases that limit muscle strength and mobility ... , From June 1 to June 30, sweetFrog associates ... opportunity to help send local children affected by neuromuscular ...
(Date:5/28/2015)... (PRWEB) May 28, 2015 According ... ( http://www.idataresearch.com ), the shoulder reconstruction device market, ... small bone & joint market in 2014. This ... arthroplasty procedures in the U.S. due to increased ... device technology resulting in greater patient outcomes. Therefore, ...
(Date:5/28/2015)... 2015 The Khanna Vision Institute announced ... application to make learning about treatment of keratoconus ... few years. This proliferation of treatment techniques has not ... of the nuances of the cutting edge technologies. Dr.Khanna, ... websites can be boring and printed material can be ...
(Date:5/28/2015)... 28, 2015 WebWatcher, the ... their partnership with BeSure Consulting to help ... The partnership will combine BeSure Consulting’s ... parental monitoring software solution. , Led by ... Consulting's passion is concentrated on teaching law ...
Breaking Medicine News(10 mins):Health News:An Application to Learn Where to Invest Money was Featured on NewsWatch Television 2Health News:sweetFrog and MDA Join Forces to Send Kids with Muscle Disease to Summer Camp 2Health News:sweetFrog and MDA Join Forces to Send Kids with Muscle Disease to Summer Camp 3Health News:DePuy Synthes and Biomet Lead Fastest Growing U.S. Shoulder Reconstruction Device Market 2Health News:DePuy Synthes and Biomet Lead Fastest Growing U.S. Shoulder Reconstruction Device Market 3Health News:Dr.Khanna Announced the Release of an Interactive Web Application for Keratoconus Treatment 2Health News:WebWatcher Partners with BeSure Consulting 2Health News:WebWatcher Partners with BeSure Consulting 3
... and television that anger causes// the cardiac arrest of ... Yale University researchers have found out that sudden strong ... in the heart to twitch. This may be especially ... although seemingly healthy people my also be affected. ...
... Surrey, UK, had developed a new// drug that will boost ... is made of a compound called CX717, and it is ... This drug had showed effectiveness in increasing memeory, alertness, increasing ... who sleep less. ,The drug was given to ...
... had successfully created a new breed of mice that can ... for themselves.//, ,The reactive oxygen of the free radicals ... to poor health and even death. The new research may ... radical theory of ageing. ,The new mice created ...
... may lead to babies born with deformed prostate glands.//, ... out that prostate deformities can happen if the pregnant ... The pills contain ostrogen like chemiclasthat are alos present ... can cause prostate cancer or bladder diseases later in ...
... study that looked into the smoking habit of 6654 people ... that giving up smoking do causes weight gain, but the ... population under study was measured for effect of giving up ... when the age group was 20 to 44yrs, and was ...
... levels of blood marker for inflammation that can //lead to ... say that it may be good for the health of ... man will have a close family, a good group of ... the workplace, or the neighbors, or a religious organization. ...
Cached Medicine News:
(Date:5/28/2015)... 28, 2015 Lungpacer Medical, Inc., a ... system announced today that it will be presenting ... Thursday, June 4, 2015 in New York City.  ... Eastern Time.   About Lungpacer Medical, ... stage medical device company pioneering the development of ...
(Date:5/28/2015)... FORT WORTH, Texas , May 28, 2015 /PRNewswire/ ... defines and segments the concerned market with analysis and ... million in 2014 and is estimated to reach $1,177.8 ... 2014 to 2019. Browse through the TOC ... the industry trends and segments, with help of various ...
(Date:5/28/2015)... May 28, 2015  Pharmaceutic Labs announces its ... section 503B of the FDA,s Drug Quality and ... company is subject to Current Good Manufacturing Practice ... according to the highest standards of CGMP 21 ... To continuously comply with FDA regulations and ensure ...
Breaking Medicine Technology:Mannequin-Based Simulation Market Report is Expected to Reach $1,177.8 Million by 2019, at a CAGR of 19.4% from 2014 to 2019 2Mannequin-Based Simulation Market Report is Expected to Reach $1,177.8 Million by 2019, at a CAGR of 19.4% from 2014 to 2019 3
Qualcare™ Thumb Spica...
... QuickCast® Cast-like splints Slip on, ... and QuickCast conforms to fit. ... Reheat to adjust and reposition. ... with a temperature-sensitive polymer Straps ...
... can be difficult for persons who have ... cord injuries and for children with poor ... other motor or coordination problems. The FoamWrap ... and coordination. Soft foam-lined material provides light ...
... and the CMC joint of the thumb and has ... thumb joints. An excellent choice for active persons who ... mobility for daily activities. Ideal for persons with arthritis ... with pain due to repetitive stress. This is the ...
Medicine Products: