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:8/29/2014)... 2014 Local veterinarian, Dr. Keith Clement, ... seeking candidates to participate in an investigational study of ... ultimate goal of this study is to determine if ... or two arthritically affected joints can help reduce pain ... for the current investigational study must be older than ...
(Date:8/29/2014)... August 29, 2014 Intrinsic Imaging, ... certified, GAMP® 5 compliant imaging core lab, announced ... Phase II clinical trial to assess a new ... this trial, Intrinsic Imaging will provide comprehensive imaging ... protocol and charter development, site qualification, site training ...
(Date:8/28/2014)... August 28, 2014 “This kit has an ... screen from 0 to 150 ppb,” said Mark Tess, PhD, ... significant benefit to plant owners and USDA-GIPSA inspection agencies that ... commodities. Testing can take place in a matter of minutes ... the plant test the feed and grain before accepting it, ...
(Date:8/28/2014)... The ability for organizations to attract top ... individuals to perform at the highest of levels, are ... to compete in this post–recession era. The pharmaceutical ... the sector increasingly focuses on the importance of employee-fit ... real results on the organization's development and the innovation ...
Breaking Biology Technology:Burnt Hills Veterinary Hospital Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2Intrinsic Imaging Awarded Phase II Clinical Trial to Assess New Treatment for Non-Hodgkin’s Lymphoma 2Klein Hersh International Leads Philadelphia Area Life Science Industry in Company Culture 2Klein Hersh International Leads Philadelphia Area Life Science Industry in Company Culture 3
... empower transplant patients ... and their ... (Pink Sheets: ALPMF), a leader in the field of transplantation, ... announced a collaborative partnership to jointly,develop further materials for the ...
... new class of anti-infectives, to ... advise Company on pexiganan development, WELLESLEY HILLS, Mass., Oct. ... following its,acquisition of rights to pexiganan, Michael Zasloff, M.D. has ... skin of the African clawed frog while at NIH (National ...
... SUNNYVALE, Calif., Oct. 16 Kyphon Inc.,(Nasdaq: KYPH ... the merger agreement with Medtronic, Inc. (NYSE: MDT ... As previously announced, on July 26, 2007, Kyphon entered ... Medtronic,agreed to acquire all of the outstanding shares of ...
Cached Biology Technology:Astellas Pharma US, Inc. and The International Transplant Nurses Society (ITNS) Collaborate on Content for Transplant Experience Program 2Astellas Pharma US, Inc. and The International Transplant Nurses Society (ITNS) Collaborate on Content for Transplant Experience Program 3MacroChem Announces Michael Zasloff, M.D., Ph.D. Joins Company's Scientific Advisory Board 2MacroChem Announces Michael Zasloff, M.D., Ph.D. Joins Company's Scientific Advisory Board 3MacroChem Announces Michael Zasloff, M.D., Ph.D. Joins Company's Scientific Advisory Board 4MacroChem Announces Michael Zasloff, M.D., Ph.D. Joins Company's Scientific Advisory Board 5Kyphon Stockholders Approve Merger with Medtronic 2
(Date:9/2/2014)... With their long, spiky legs and their propensity for ... stuff of nightmares. And now research from North Carolina ... spread into homes across the eastern United States. , ... or pose any kind of threat to humans," says ... State and lead author of a paper about the ...
(Date:9/2/2014)... of lithographic limestone is well known as a ... that area (for example, Archaeopteryx). Now, for the ... the French equivalent of these outcrops - discoveries ... known water treader. , Despite the abundance of ... have been obtained from the Late Kimmeridgian equivalents ...
(Date:9/2/2014)... a hot oven, you rapidly pull your hand away. ... sensing and responding to such painful stimuli, they are ... have made a surprising discovery about the role of ... have built a structural model of the molecule. These ... may help direct new strategies to treat pain in ...
Breaking Biology News(10 mins):Researchers find Asian camel crickets now common in US homes 2Exceptionally well preserved insect fossils from the Rhône Valley 2Surprising new role for calcium in sensing pain 2Surprising new role for calcium in sensing pain 3
... occurring in the Sundarbans, resulting in as much as 200m ... published today (11th Jan) in Remote Sensing by ... as human development thrives, and global temperature continues to rise, ... at alarming rates. This will inevitably lead to species loss ...
... are "apple-shaped" with fat more concentrated around the abdomen ... such as heart disease and diabetes than those who are ... thighs. But new research conducted at UC Davis ... and Metabolism provides further evidence that the protective benefits ...
... Oxidative stress is a primary villain in a host ... to Alzheimer,s disease, Amyotrophic Lateral Sclerosis and Parkinson,s disease. ... Research Institute (TSRI) have found that blocking the interaction ... neurons associated with these neurodegenerative diseases, suggesting a potential ...
Cached Biology News:Bengali forests are fading away 2UC Davis study deflates notion that pear-shaped bodies more healthy than apples 2UC Davis study deflates notion that pear-shaped bodies more healthy than apples 3Scripps Florida scientists uncover potential drug target to block cell death in Parkinson's disease 2
Form: Ready to use Applications: ELISA...
EnzChek Ultra Xylanase Assay Kit *500 assays*...
Goat polyclonal to p27 KIP 1 ( Abpromise for all tested applications). Antigen: Synthetic peptide: C-KRPATDDS STQNK, corresponding to Internal sequence amino acids 153-165 of Human p27 KIP 1 ...
Defender against cell death 1...
Biology Products: