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:8/10/2015)... , August 10, 2015 The ... offers comprehensive analysis of the global border security ... generate revenues of $16.4bn in 2015. Now: Border ... is an example of the business critical issue you need ... read visiongain ,s objective analysis of how this will ...
(Date:8/6/2015)... TELTOW, Germany , August 6, 2015 ... SensoMotoric Instruments (SMI) shows the world,s first ... based on Epson,s Moverio BT-200 see-through head mounted ... this new solution, unprecedented quality and efficiency is brought ... context-sensitive displays. For the first time, professionals and researchers ...
(Date:8/5/2015)... 2015 According to a new ... Software, Services, Vertical (BFSI, Airport, IT & Telecom, Utilities, ... Forecast to 2020", published by MarketsandMarkets, defines and segments ... various segments. The global PIAM Market is estimated to ... by 2019, at a CAGR of 14.9 % from ...
Breaking Biology News(10 mins):Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 2Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 3Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 4Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 5Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 6Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 7Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 8Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 9SMI Shows First Eye Tracking Upgrade for Augmented Reality Glasses 2SMI Shows First Eye Tracking Upgrade for Augmented Reality Glasses 3Physical Identity and Access Management Market Worth $546.2 Million by 2019 2Physical Identity and Access Management Market Worth $546.2 Million by 2019 3Physical Identity and Access Management Market Worth $546.2 Million by 2019 4
... is available in German . The ... blocks inflammations. This was discovered by an international research team, ... as well as the doctoral candidate, Bjrn Spudy, are a ... the US and Great Britain were published yesterday, Sunday (7 ...
... November 8, 2010 The economic recession impacts many aspects ... This can have serious consequences for those suffering from chronic ... nutrition and menu planning play a key role in treatment, ... November/December issue of the Journal of Nutrition Education and ...
... Hamilton, ON (November 7, 2010) In an important ... human blood from adult human skin. The discovery, ... could mean that in the foreseeable future people needing blood ... like anemia will be able to have blood created from ...
Cached Biology News:Discovery of an anti-inflammatory substance 2Greater food insecurity from recession poses increased risk to low income individuals with diabetes 2
(Date:8/27/2015)... CELEBRATION, Fla. , Aug. 27, 2015 ... announced that a patient,s eyes—and life—were saved by doctors ... , working with NNFF, NovaBay Pharmaceuticals and Dr. ... Wound Care Center at Seton Medical Center in ... The successful treatment used a breakthrough approach, pioneered by ...
(Date:8/27/2015)... , Aug. 27, 2015 HUYA Bioscience International ... of the Japan Society of HTLV-1, held this week ... The purpose of the Society is to promote research ... development of medical technology and research related to these ... "HUYA is proud to support this prestigious ...
(Date:8/27/2015)... ... August 27, 2015 , ... METTLER TOLEDO's web-based ... down the product choices to a manageable shortlist of bench and floor scales ... models that fit best with the customer’s industry and application. , Side-by-side ...
(Date:8/26/2015)... ... August 26, 2015 , ... MediVet Biologics, a leader ... laboratory is to open in Manhattan, Kansas in early October, 2015. The location ... of research and development through collaboration with researchers from Kansas State University’s College ...
Breaking Biology Technology:Patient's Life and Eyes Saved from Gruesome Flesh-Eating Infection Consuming Her Face 2Patient's Life and Eyes Saved from Gruesome Flesh-Eating Infection Consuming Her Face 3HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 2HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 3HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 4METTLER TOLEDO Updates Online Scale Selection Tool 2MediVet Biologics Animal Health Secures Additional Laboratory Facility in Manhattan, Kansas 2MediVet Biologics Animal Health Secures Additional Laboratory Facility in Manhattan, Kansas 3
... on the University of Wisconsin-Madison campus will have a ... starting a company and the many related centers on ... the New Business Start-Up Initiative , which is ... training. This assistance will be available to UW=-Madison faculty, ...
... on the Internet, it appears to have worked as intended. ... the process. , ,Yes, we appear to have some wildly ... headed as a country. Yes, there was some, shall we ... Certainly it will take us many years to fully understand ...
... Developing an improved IT infrastructure and enterprise ... development and government efficiency, according to presenters at ... held Monday at the Monona Terrace. , ,Discussion ... coordinate efforts to increase access to broadband networks, ...
Cached Biology Technology:UW plans entrepreneurship program to link campus resources 2Technology and democracy 2Technology and democracy 3Wisconsin introduces new state IT plan 2Wisconsin introduces new state IT plan 3Wisconsin introduces new state IT plan 4
Chaps Cell Extract Buffer can be used to lyse cells under nondenaturing conditions and is recommendedfor the preparation of cell lysates to be used with our caspase signaling pathway antibodies...
Mouse monoclonal [1Q17] to TGE Virus peplomer ( Abpromise for all tested applications)....
B3GALT2 Immunogen: B3GALT2 (NP_003774, 324 a.a. ~ 423 a.a) partial recombinant protein with GST tag. Storage: -20 C, Avoid Freeze/Thaw Cycles *Available for distribution in the US only...
Rabbit polyclonal to Lck (phospho Y192) ( Abpromise for all tested applications). entrezGeneID: 3932 SwissProtID: P06239...
Biology Products: