Navigation Links
Massachusetts Eye and Ear researchers discover elusive gene that causes a form of blindness from birth
Date:7/29/2012

BOSTON (July 29, 2012) Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1. Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy.

LCA is an inherited retinal degenerative disease characterized by reduced vision in infancy. Within the first few months of life, parents usually notice a lack of visual responsiveness and unusual roving eye movements known as nystagmus. LCA typically involves only vision problems, but can be accompanied by disease in other organ systems in a minority of patients. LCA is a common reason children are enrolled in schools for the blind.

"The immediate benefit of this discovery is that affected patients with mutations in this new LCA gene now know the cause of their condition," said Eric Pierce, M.D., Ph.D., co-senior author and director of the Ocular Genomics Institute at Mass. Eye and Ear. "Scientists now have another piece to the puzzle as to why some children are born with LCA and decreased vision. The long-term goal of our research is to develop therapies to limit or prevent vision loss from these disorders."

NMNAT1 is the 18th identified LCA gene. The gene resides in a region that was known to harbor an LCA gene since 2003, but the specific disease gene has been undiscovered until now. These findings will be published on July 29 in the online edition of Nature Genetics.

To identify NMNAT1, scientists performed whole exome sequencing of the family of two siblings who initially presented for evaluation of LCA but who had no mutations in any of the known LCA genes. Being seen by a multi-disciplinary team
'/>"/>

Contact: Mary Leach
Mary_Leach@meei.harvard.edu
61-705-734-170
Massachusetts Eye and Ear Infirmary
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Researchers monitor red tides in Chesapeake Bay
2. BUSM researchers find link between childhood abuse and age at menarche
3. Researchers dig through the gene bank to uncover the roots of the evolutionary tree
4. Researchers find new gene mutation associated with congenital myopathy
5. NASA and university researchers find a clue to how life turned left
6. To understand childhood obesity, researchers look to inactive, fat rats
7. Researchers study knee stress at tissue, cellular levels
8. UConn researchers discover that red tide species is deadlier than first thought
9. Researchers seek to improve drought resistance of biofuels crops
10. University of Tennessee Space Institute researchers develop laser technology to fight cancer
11. Researchers develop ginseng-fortified milk to improve cognitive function
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/22/2015)... CT , May 22, 2015  NXT-ID, Inc. (NASDAQ: ... June 1st, it will be ending its promotional pricing and ... . Laurence Savin , Head of Marketing ... exclusive promotional pricing until the end of May. To get ... wocketwallet.com/invite and when we open the store on June 1, ...
(Date:5/20/2015)... May 20, 2015 NXT-ID, Inc. (NASDAQ: ... wholly owned subsidiary, 3D-ID LLC, a company engaged in ... for the biometrics technology portion of the recently awarded ... the Department of the Army. 3D-ID LLC ... for government, law enforcement and security agencies. ...
(Date:5/14/2015)... 2015 Research and Markets ( http://www.researchandmarkets.com/research/5whpxg/fingerprint ... Sensors Market in Smart Mobile Devices " report ... 2014 was a watershed year for fingerprint sensors in ... Pay,. Apple gave fingerprint sensors a raison d,etre in ... sensors are a must-have feature in flagship smartphones. ...
Breaking Biology News(10 mins):NXT-ID, Inc Announces Retail Price For Wocket Smart Wallet And Extends Discounted Promotional Price Till End Of May 2NXT-ID, Inc Announces Retail Price For Wocket Smart Wallet And Extends Discounted Promotional Price Till End Of May 3NXT-ID, Inc Announces Participation as Member of Team Battelle for TIES Contract Award 2NXT-ID, Inc Announces Participation as Member of Team Battelle for TIES Contract Award 3Global Smart Mobile Devices Fingerprint Sensors Market 2015-2019: Key Vendors are Authentec, Validity Sensors, Fingerprint Cards, Next Biometrics Group. IDEX, and Qualcomm 2
... comprehensive marine biodiversity observation network could be established with ... assessment published in the May 2013 issue of ... major gaps in scientists, understanding of the global distribution ... climate change, pollution, habitat destruction, and overfishing. The network ...
... seafood as "sustainable" by the nonprofit Marine Stewardship Council ... consortium of researchers has found. "When consumers want ... demand: fisheries can become more sustainable or the definition ... meaninglesswith MSC seafood, the definition has been repeatedly watered ...
... a variety of essential functions such as DNA replication, ... of proteins expressed in an organism at a given ... While the genome of an organism remains relatively stable, ... cell and even within a single cell and changing ...
Cached Biology News:'Sustainable fishing' certification too lenient and discretionary, study finds 2'Sustainable fishing' certification too lenient and discretionary, study finds 3Metabolic fingerprinting: Using proteomics to identify proteins in gymnosperm pollination drops 2
(Date:6/2/2015)... 2015 Global Stem Cells Group ... Bioquark, Inc.’s biologic products for the regeneration and repair of ... Global Stem Cells Group’s ambitious expansion plans in Latin America, ... access to regenerative medicine and stem cell therapies. , ... biologics that have the ability to alter the regulatory state ...
(Date:6/2/2015)... 2015 Research and Markets( http://www.researchandmarkets.com/research/2b7734/molecular ) has ... Global Market Size, Strategy and Forecasts - 2015 to ... Diagnostics - Global Market Size, Strategy and Forecasts - ... can use. Hundreds of pages of information including a ... Payment Schedules to help understand test pricing in detail. ...
(Date:6/2/2015)... 2015 Research and Markets( http://www.researchandmarkets.com/research/l5jcdk/genotyping_market ) has ... Technology, Application & by Products - Global Forecast to ... global genotyping market is expected to reach $17.0 Billion ... CAGR of 22.3% during the forecast period of 2015 ... to the availability of a range of products for ...
(Date:6/2/2015)... MALVERN, Pa. , June 2, 2015 /PRNewswire/ ... will be attending the BIO Exhibition 2015 in ... BIO Exhibition, the world,s largest biotechnology gathering, allows ... to high-level executives, where they can evaluate emerging ... has significant eClinical expertise in the design, implementation ...
Breaking Biology Technology:Adimarket Named Latin American Distributor for Bioquark Biologic Products for the Regeneration and Repair of Human Organs and Tissue with Stem Cells 2Adimarket Named Latin American Distributor for Bioquark Biologic Products for the Regeneration and Repair of Human Organs and Tissue with Stem Cells 3Global Molecular Diagnostics Report 2015-2019 - Market Size, Strategy and Forecasts 2Global Molecular Diagnostics Report 2015-2019 - Market Size, Strategy and Forecasts 3Genotyping Market Report 2015 by Technology, Application & by Products - Global Forecast to 2020 for the $17 Billion Market 2YPrime at BIO Exhibition in Philadelphia and DIA in Washington DC during the month of June 2
... ... capacity, additional capabilities to growing laboratory in order to meet growing customer demands. , ... Tampa, FL (Vocus) June 15, 2009 ... triple the company,s previous capacity and will accommodate projected growth through 2015., , , , ...
... , ... Leadership in Highly Automated QT(sm) Evaluation and Helps Sponsors Avoid False Positives , ... Rochester, NY (PRWEB) June ... and automated QT analysis, announced that it has been chosen by a medium sized ...
... complete a $17.3 million Series C investment , , ... CEO , , - Aggressive launch of Sideguard(TM) Sidebranch ... - Expansion of management team, R&D and manufacturing capacity in ... June 15 Cappella, Inc. (Cappella) announces today ...
Cached Biology Technology:CoreRx, Inc. Announces Plans for Expansions to Meet the Needs of Growing Pharmaceutical Formulation Development Business 2iCardiac Selected for Multiple Cardiac Safety Studies 2Cappella Inc. Secures $17.3 Million Series C Investment 2Cappella Inc. Secures $17.3 Million Series C Investment 3Cappella Inc. Secures $17.3 Million Series C Investment 4Cappella Inc. Secures $17.3 Million Series C Investment 5
... Ideal for biocompatibility testing at various ... of air through a clean heating ... temperature up to 140F. Transparent panels ... shields allow easy access to the ...
... The Label IT siRNA Tracker Intracellular ... provides a straight forward approach to ... your design, in an efficient yet ... experiments. Subcellular localization and functional inhibition ...
... using mass numbers as a trigger, precisely ... performing investigation and research of natural compounds. ... and preparative operation. Switching between modes is ... This support provides a quick solution for ...
... IT siRNA Tracker Intracellular Localization Kit ... straight forward approach to directly label ... in an efficient yet non-destructive manner, ... localization and functional inhibition of target ...
Biology Products: