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

-kb deletion in USH2A and an inverted duplication of 446 kb in EYS, which would have likely escaped conventional screening techniques or exome sequencing. Moreover, in another Japanese patient, they identified a homozygous frameshift (p.L206fs), absent in more than 2,500 chromosomes from ethnically matched controls, in the ciliary gene NEK2, encoding a serine/threonine-protein kinase. Inactivation of this gene in zebrafish induced retinal photoreceptor defects that were rescued by human NEK2mRNA. In addition to identifying a previously undescribed ARRP gene, the study highlights the importance of rare structural DNA variations in Mendelian diseases and advocates the need for screening approaches that transcend the analysis of the coding sequences of the human genome.


'/>"/>

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:8/31/2015)... (PRWEB) , ... August 31, 2015 , ... In an ... CDA Press, the expert guest author addressed the topic of treating back pain caused ... that, while steroids were shown to slightly improve physical function in patients suffering from ...
(Date:8/31/2015)... ... , ... The Lisle family law firm of Momkus McCluskey, LLC ... peers to earn a “Leading Lawyers” distinction. , The “Leading Lawyers” ... Illinois. The nomination process is based on statewide peer survey nominations and the approval ...
(Date:8/31/2015)... Orion, Clarkston, Metamora, Michigan (PRWEB) , ... August ... ... Movestrong, has launched pre and postnatal fitness classes. , Starting September ... The classes are called "The Mom Bod" and "Healthy Body, Healthy Baby." , ...
(Date:8/31/2015)... ... 31, 2015 , ... Coast Dental Vista is celebrating its recent ... to 3 p.m. near Albertsons in the Foothill Center, located at 1279 E. Vista ... and Dr. Jay Lopp. Call (760) 208-2518 for more details or stop by on ...
(Date:8/31/2015)... ... August 31, 2015 , ... In an article ... and Reconstructive Surgery Global Open Journal that discusses the future of 3-D printing technology ... in the future, customized implants, prosthetics, and other 3-D printed tools could be used ...
Breaking Medicine News(10 mins):Health News:Article on Steroid Use for Back Pain Highlights the Effectiveness of Surgery in Treating Disk Pain, says Dr. Seyed M. Rezaian 2Health News:DuPage County Family Law Attorney Named Illinois Leading Lawyer 2Health News:Discover How to Replace Missing Teeth, Reduce Cavities, and Restore Oral Health During Coast Dental’s Open House in Vista, CA on Sept. 5, 2015 2Health News:Discover How to Replace Missing Teeth, Reduce Cavities, and Restore Oral Health During Coast Dental’s Open House in Vista, CA on Sept. 5, 2015 3Health News:Recent Article on 3-D Printing Highlights the Future of Custom Medical Solutions Using the Technology, says Beverly Hills Physicians 2Health News:Recent Article on 3-D Printing Highlights the Future of Custom Medical Solutions Using the Technology, says Beverly Hills Physicians 3
... on prevention and wellness, CHICAGO, May 1 ... and consumer engagement strategies are gaining,in popularity. These ... of U.S.,employers, views on the value of health ... Health (MBGH) at its 28th Annual Conference being,held ...
... Award is a Prestigious National Honor for Volunteer Service, ... National,Volunteer Week (April 28th-May 2nd), the U.S. Fund for ... most ever -- with the,PRESIDENT,S VOLUNTEER SERVICE AWARD, a ... in 2003, the AWARD is available on an annual ...
... in Medicare, WASHINGTON, May 1 In ... consumers, employers, unions, and medical,professionals have signed a ... would require electronic prescribing (e-prescribing) in,Medicare, the Pharmaceutical ... support for an e-prescribing requirement in Medicare,underscores how ...
... Institute of,Public Health (TNIPH) released a second report today ... The study, Tennessee County,Health Rankings: 2007 Index, both profiles ... TNIPH released the first County Health Ranking in,December 2006., ... profiles of a Tennessee,county,s health based on a series ...
... of annual Community Event at Wal-Mart Stores Nationwide Receive ... ... to,educate women and their families about living healthier, Speaking of,Women,s Health will hold ... 3 from 11 a.m. to 4 p.m. In,time for Mother,s Day, this event ...
... Right, Move More and ... Milk Their Diets, ST. LOUIS, Mo., May ... different fad diets -- which seem to go in and out of,fashion like ... Americans -- including twenty-five percent of St.,Louis residents -- remain overweight or obese., ...
Cached Medicine News:Health News:MBGH Annual Employer Benefit Survey Reveals Growing Shift to Value-Based Benefit Design 2Health News:MBGH Annual Employer Benefit Survey Reveals Growing Shift to Value-Based Benefit Design 3Health News:MBGH Annual Employer Benefit Survey Reveals Growing Shift to Value-Based Benefit Design 4Health News:U.S. Fund for UNICEF Honors Volunteers With PRESIDENT'S VOLUNTEER SERVICE AWARD 2Health News:U.S. Fund for UNICEF Honors Volunteers With PRESIDENT'S VOLUNTEER SERVICE AWARD 3Health News:Consumers, Businesses, Unions, and Medical Professionals: Time for Congress to Act on E-Prescribing Legislation 2Health News:Tennessee County Health Rankings Released 2Health News:Speaking of Women's Health Gives the Gift of Knowledge and Good Health This Mother's Day 2Health News:Speaking of Women's Health Gives the Gift of Knowledge and Good Health This Mother's Day 3Health News:Message to St. Louis, MO Residents: Forgo Fad Dieting and Join the Campaign for Healthy Weight 2Health News:Message to St. Louis, MO Residents: Forgo Fad Dieting and Join the Campaign for Healthy Weight 3Health News:Message to St. Louis, MO Residents: Forgo Fad Dieting and Join the Campaign for Healthy Weight 4
(Date:8/31/2015)... FLINT, Mich. , Aug. 31, 2015  Diplomat Pharmacy, ... pharmacy, has announced that Phil Hagerman , Chairman & ... four upcoming investor conferences. Mr. Hagerman and ... 2015 Healthcare Conference in Boston on ... Mr. Hagerman and Mr. Whelan are also scheduled to participate ...
(Date:8/31/2015)... ALBANY, N.Y. , Aug. 31, 2015 /PRNewswire/ ... a.s. today announced a strategic collaboration focused on ... of opium-derived active pharmaceutical ingredients, ("APIs"). The collaboration ... biomass and their expertise in developing and manufacturing ... their ability to tech transfer processes into these ...
(Date:8/31/2015)... ADELAIDE, Australia , Aug. 31, 2015 ... the discovery and development of innovative therapeutics for the ... and cancer, today announced that its BNC101 IND submission ... Administration (FDA). Bionomics plans to initiate a Phase 1 ... in patients with metastatic pancreatic cancer prior to 31 ...
Breaking Medicine Technology:Diplomat to Participate in Upcoming Investor Conferences 2AMRI Announces Agreement with Saneca Pharmaceuticals, a.s. for Portfolio of Opium-Derived Active Pharmaceutical Ingredients 2AMRI Announces Agreement with Saneca Pharmaceuticals, a.s. for Portfolio of Opium-Derived Active Pharmaceutical Ingredients 3AMRI Announces Agreement with Saneca Pharmaceuticals, a.s. for Portfolio of Opium-Derived Active Pharmaceutical Ingredients 4Successful BNC101 IND Submission Paves Way for Development of Promising Cancer Stem Cell Drug Candidate 2Successful BNC101 IND Submission Paves Way for Development of Promising Cancer Stem Cell Drug Candidate 3Successful BNC101 IND Submission Paves Way for Development of Promising Cancer Stem Cell Drug Candidate 4
... N.J., Sept. 20 Data from the GRACE ( G ... E xperience) study will be published in the September ... GRACE is the largest-ever study of treatment-experienced adult women with ... Sponsored by Tibotec Therapeutics Clinical Affairs, a division of Centocor ...
... Gen-Probe Incorporated (Nasdaq: GPRO ) announced today ... officer of Cytyc Corporation, has been elected to its ... including eight independent directors. "We are delighted ... board," said Hank Nordhoff, the Company,s chairman.  "We expect ...
Cached Medicine Technology:Data From Landmark Study Evaluating Gender Differences in Response to an HIV Therapy Published in Annals of Internal Medicine 2Data From Landmark Study Evaluating Gender Differences in Response to an HIV Therapy Published in Annals of Internal Medicine 3Data From Landmark Study Evaluating Gender Differences in Response to an HIV Therapy Published in Annals of Internal Medicine 4Data From Landmark Study Evaluating Gender Differences in Response to an HIV Therapy Published in Annals of Internal Medicine 5Data From Landmark Study Evaluating Gender Differences in Response to an HIV Therapy Published in Annals of Internal Medicine 6Data From Landmark Study Evaluating Gender Differences in Response to an HIV Therapy Published in Annals of Internal Medicine 7Data From Landmark Study Evaluating Gender Differences in Response to an HIV Therapy Published in Annals of Internal Medicine 8Patrick J. Sullivan Elected to Gen-Probe Board of Directors 2
... Flowmeters with brass and aluminum body., ... add suffix S to model number. ... add suffix C to model number. ... with Power Take-Off, add PT to ...
... Series Pediatric Oxygen Flowmeters with Double ... chain, add suffix S to model ... Color-Code, add suffix C to model ... Flowmeters with Power Take-Off, add PT ...
... FM Series Oxygen Adult Flowmeters, ... chain, add suffix S to ... For Canadian Color-Code, add suffix ... FM104C. , For Double Flowmeters ...
... American Proficiency Institute offers innovative proficiency ... technical support. As a result, API is ... in the world with over 12,000 laboratories ... advantages of using API:, Paperless ...
Medicine Products: