Navigation Links
Discovery of a new retinal gene involved in childhood blindness
Date:3/5/2009

This release is available in French.

Montreal March 2nd, 2009 The team of Dr. Robert Koenekoop which includes Dr. Irma Lopez from the Research Institute of the MUHC at the Montreal Children's Hospital played a crucial role in the international collaboration that led to the discovery of a new gene that causes Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), two devastating forms of childhood blindness.

This finding of this new gene, called SPATA7, is remarkable because it identifies a new retinal metabolic disease pathway that may be crucial for many patients. It also opens a new avenue for a potential genetic therapy. Gene therapy targeting different genes has recently proved successful for the same disease in human subjects. The study will be published on March 5th, 2009 in the American Journal of Human Genetics.

New cell mechanism at play

Researchers have now identified a total of fifteen genes involved in LCA, but SPATA7 is the first gene with a mutation that disrupts the protein transport between two important compartments of the cell: the endoplasmic reticulum and the Golgi apparatus. All proteins in every cell have to pass through this transport pathway; thus SPATA7 plays a major role and its mutation may affect many aspects of vision.

"Until now we were not aware that this cellular mechanism played a role in LCA or any other eye disease. This is a very important step that opens up a number of new research avenues, particularly in our understanding of the specific cellular processes involved in blindness. This finding also increases the number of potential therapeutic targets and therefore the chances of finding a treatment. We are extremely motivated by all of these new possibilities," explained Dr. Koenekoop.

First step towards gene therapy

"This is an incredibl
'/>"/>

Contact: Isabelle Kling
isabelle.kling@muhc.mcgill.ca
514-843-1560
McGill University Health Centre
Source:Eurekalert

Page: 1 2

Related biology technology :

1. PDL BioPharma Announces Significant Strategic and Portfolio Changes to Focus on Antibody Discovery and Development
2. Novocell Announces Discovery Linking Key Cancer Cell Signaling Pathways With Proliferation and Self-Renewal of Human Embryonic Stem Cells
3. European Centre for Modern Drug Discovery Established in Hamburg
4. Dow AgroSciences and Exelixis Plant Sciences Announce Major Research Collaboration, Asset Purchase to Advance Gene Discovery and Validation
5. Isis Enters Broad Collaboration With Ortho-McNeil, Inc. for the Discovery, Development and Commercialization of Antisense Drugs to Treat Metabolic Diseases
6. Indivumed Supports Roche Diagnostics With Immunohistochemistry Services and Clinical Specimens for Biomarker Discovery and Drug Development
7. TorreyPines Therapeutics and Eisai Co., Ltd. Extend Genetics Discovery Collaboration for Alzheimers Disease
8. Wyeth Pharmaceuticals Acquires Haptogen Ltd. to Boost Biotechnology Drug Discovery
9. Tandem Labs New England Facility Doubles Discovery Support Capacity - Increasing Foothold in New England
10. New method of selecting DNA for resequencing accelerates discovery of subtle DNA variations
11. Agendia Acquires Rights to the Discovery of a Major Drug Resistance Mechanism in Breast Cancer Potentially Leading to a Herceptin(R) Sensitivity Test
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/3/2015)... Intelligent Implant Systems, LLC is ... No. 9,044,273, underpinning the Revolution™ Spinal System. Revolution™ ... implant procedure by eliminating complicated reusable non-sterile instrument ... instrument tray. The implants, designed specifically for this ... technology. Intelligent Implant Systems has additional patents on ...
(Date:6/2/2015)... , June 2, 2015 /CNW/ - Shell today celebrated the ... the premium category with an exhibit the size of ... included interactive demonstrations for media and the public, and ... V-Power NiTRO+ Premium Gasoline provides the best total engine ... performance: engine wear, gunk and corrosion. "With ...
(Date:6/2/2015)... Research and Markets ( http://www.researchandmarkets.com/research/6wjpd6/bioburden_testing ) has ... by Product , Test, Application & End User - ... The bioburden testing market is expected to reach ... growing at a CAGR of 9.8% from 2014 to ... limit testing market is segmented into consumables and instruments. ...
(Date:6/2/2015)... 02, 2015 Research and Markets( http://www.researchandmarkets.com/research/7264hm/biomarkers ... new report "Biomarkers - Technologies, Markets and ... report follows the broad definition of a biomarker ... and evaluated as an indicator of normal biological ... to a therapeutic intervention. Tests based on biomarkers ...
Breaking Biology Technology:Intelligent Implant Systems Announces US Patent Attained for Revolution™ Spinal System 2New Shell V-Power NiTRO+ Premium Gasoline Introduces Breakthrough Formulation for BEST TOTAL Engine Protection 2New Shell V-Power NiTRO+ Premium Gasoline Introduces Breakthrough Formulation for BEST TOTAL Engine Protection 3New Shell V-Power NiTRO+ Premium Gasoline Introduces Breakthrough Formulation for BEST TOTAL Engine Protection 4Bioburden Testing Market 2015 - Global Forecasts to 2019 2Global Biomarkers Market Report 2015 - Technologies, Markets and Companies Analysis and Forecasts 2014-2024 2Global Biomarkers Market Report 2015 - Technologies, Markets and Companies Analysis and Forecasts 2014-2024 3
... Baxter Healthcare Corporation,today announced its V-Link ... first needleless intravenous (IV) connector to,contain an ... in the,United States and Canada. V-Link with ... 99.9 percent or more of specific common ...
... discussed during Omnicell,educational, programs April 15 at ... The Mid-America Club in Chicago, MOUNTAIN ... Inc. (Nasdaq: OMCL ), a leading provider,of ... in,healthcare facilities, and Rice Memorial Hospital today announced ...
... Collins, M.D., Ph.D. a,physician-geneticist and leader of ... of the inaugural Inamori Ethics Prize from ... at Case Western Reserve,University., (Photo: ... Prize honors outstanding international ethical,leaders. It is ...
Cached Biology Technology:Baxter's V-Link Luer-Activated Device With VitalShield Protective Coating Now Available For Hospitals 2Baxter's V-Link Luer-Activated Device With VitalShield Protective Coating Now Available For Hospitals 3Baxter's V-Link Luer-Activated Device With VitalShield Protective Coating Now Available For Hospitals 4Rice Memorial Hospital Implements SinglePointe(TM) Automated Patient-Specific Management Solution From Omnicell 2Rice Memorial Hospital Implements SinglePointe(TM) Automated Patient-Specific Management Solution From Omnicell 3Leading Geneticist Francis Collins Named First Recipient of the Inamori Ethics Prize at Case Western Reserve University 2Leading Geneticist Francis Collins Named First Recipient of the Inamori Ethics Prize at Case Western Reserve University 3Leading Geneticist Francis Collins Named First Recipient of the Inamori Ethics Prize at Case Western Reserve University 4
(Date:5/29/2015)... May 28, 2015 Research and Markets ... the "Facial Recognition Market by Solution, by ... Forecast to 2020" report to their offering. ... facial recognition technology become more efficient and cost ... traction and investment from the commercial sector. The ...
(Date:5/22/2015)... Inc. (NASDAQ: NXTD ) ("NXT-ID" or the "Company") announces ... pricing and making the Wocket generally available for $229 via ... of Marketing said, "We,ve extended the opportunity to take advantage ... To get your wocket at this special price, submit your ... June 1, you,ll receive a unique code that gives you ...
(Date:5/20/2015)... 2015 NXT-ID, Inc. (NASDAQ: NXTD ) ... subsidiary, 3D-ID LLC, a company engaged in biometric identification ... biometrics technology portion of the recently awarded TIES (Technical ... of the Army. 3D-ID LLC has a ... law enforcement and security agencies. Gino ...
Breaking Biology News(10 mins):Global advanced Facial Recognition Market Expected to Grow From $2.77 Billion in 2015 to $6.19 Billion in 2020, at an Estimated CAGR of 17.4% 2NXT-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 3
... --- At least among mice, females have innate protection ... State University study. While it,s tricky to draw ... scientists better understand and treat the 1.4 million Americans ... disease and colitis, the two most common forms of ...
... a range of conditions could be improved with stem cell ... of potential treatments. Medical Research Council scientists at the ... the laboratory that reach the gold standard required by the ... used stem cell technology to generate liver cells which ...
... There is growing evidence that a gene variant that ... responses to treatments for mood and anxiety disorders. In ... with a less functional variant of the gene coding ... exposure therapy. This gene has been implicated previously ...
Cached Biology News:Posttraumatic stress disorder treatment: Genetic predictor of response to exposure therapy 2
... provides continuous vertical flow of 99.99% particle-free ... cleanliness standards , Stainless steel ... , Large, ergonomically sloped polycarbonate ... of filling machines or other large process ...
... Ideal for biocompatibility testing at ... circulation of air through a clean ... internal temperature up to 140F. Transparent ... strip shields allow easy access to ...
Ideal for chemical processing that requires downward flow of exhaust fumes. Powderful 1200 CFM blower draws fumes into sub-surface bonded charcoal filter for safe removal of organic vapors (final HEP...
... Intracellular Localization Kit provides a straight forward ... of your design, in an efficient yet ... Subcellular localization and functional inhibition of target ... of the labeled siRNA into mammalian cells. ...
Biology Products: