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:12/19/2014)... , Dec. 18, 2014   ISN ... & Safety Performance Indicators publication series. With ... of activity reported in 2013 within its online contractor ... and safety key performance indicator (KPI) statistics. ... Clients, U.S. publication is available in two ...
(Date:12/17/2014)... Based on the revenues gained from ... is dominated by four major players contributing to ... players include GE Healthcare (U.K.), Siemens AG (Germany), ... Full Report Copy at http://www.marketsandmarkets.com/Market-Reports/surgical-imaging-market-210534462.html , ... attributed to its strong product portfolio, which includes ...
(Date:12/17/2014)... N.J. (PRWEB) December 17, 2014 ... (Euronext: IPN; ADR: IPSEY), today announced ... (referred to as Somatuline®) was approved by the ... treatment of gastroenteropancreatic neuroendocrine tumors (GEP-NETs) in adult ... advanced or metastatic disease to improve progression-free survival ...
(Date:12/17/2014)... Xeno Diagnostics has again received ... recent COLA inspection. Xeno has met all criteria ... accreditation organization. Accreditation is earned only by laboratories ... operations, demonstrate continued accuracy in the performance of ... survey. , While the Laboratory Excellence ...
Breaking Biology Technology:ISN Releases Third Edition of US Contractor Health & Safety Performance Indicators Publication Series 2ISN Releases Third Edition of US Contractor Health & Safety Performance Indicators Publication Series 3Global Refurbished Surgical Imaging Market by Product & Application is Estimated to Reach $1.25 Billion by 2019 - New Research Report by MarketsandMarkets 2Global Refurbished Surgical Imaging Market by Product & Application is Estimated to Reach $1.25 Billion by 2019 - New Research Report by MarketsandMarkets 3Global Refurbished Surgical Imaging Market by Product & Application is Estimated to Reach $1.25 Billion by 2019 - New Research Report by MarketsandMarkets 4Ipsen Announces the FDA Approval of Somatuline® Depot® (lanreotide) Injection for the Treatment of Gastroenteropancreatic Neuroendocrine Tumors 2Ipsen Announces the FDA Approval of Somatuline® Depot® (lanreotide) Injection for the Treatment of Gastroenteropancreatic Neuroendocrine Tumors 3Ipsen Announces the FDA Approval of Somatuline® Depot® (lanreotide) Injection for the Treatment of Gastroenteropancreatic Neuroendocrine Tumors 4Ipsen Announces the FDA Approval of Somatuline® Depot® (lanreotide) Injection for the Treatment of Gastroenteropancreatic Neuroendocrine Tumors 5Ipsen Announces the FDA Approval of Somatuline® Depot® (lanreotide) Injection for the Treatment of Gastroenteropancreatic Neuroendocrine Tumors 6Ipsen Announces the FDA Approval of Somatuline® Depot® (lanreotide) Injection for the Treatment of Gastroenteropancreatic Neuroendocrine Tumors 7Ipsen Announces the FDA Approval of Somatuline® Depot® (lanreotide) Injection for the Treatment of Gastroenteropancreatic Neuroendocrine Tumors 8Xeno Diagnostics Receives 3rd Award for Laboratory Excellence 2
... Bio-Matrix Scientific Group Inc. (OTC Bulletin Board: BMSN)( ... Inc., its wholly owned subsidiary, announced today they have ... Army Medical Research and Materiel Command (USAMRMC) for consideration ... stem cells (ASCs) harvested from liposuction for treating Traumatic ...
... PARSIPPANY, N.J., May 4 Arno Therapeutics, Inc. (OTC ... oncology therapeutics, today announced that it has voluntarily filed ... ("SEC") in order to deregister its common stock under ... a result, effective immediately, Arno,s obligation to file periodic ...
... Develop Powerful Tools for Detecting Ovarian Cancer Earlier FRANKLIN ... (Becton, Dickinson and Company) (NYSE: BDX ) ... a worldwide development and supply agreement for oncology diagnostic ... develop diagnostic products that incorporate Fujirebio Diagnostics, cancer biomarkers ...
Cached Biology Technology:Bio-Matrix Scientific Group & Entest BioMedical Submit Research Proposal to U.S. Army for Funding Adipose-Derived Stem Cells to Treat Traumatic Brain Injury 2Arno Therapeutics to Deregister its Common Stock under the Exchange Act 2Arno Therapeutics to Deregister its Common Stock under the Exchange Act 3BD and Fujirebio Diagnostics Sign Worldwide Agreement to Develop Biomarker Assays to Improve Cancer Detection and Management 2BD and Fujirebio Diagnostics Sign Worldwide Agreement to Develop Biomarker Assays to Improve Cancer Detection and Management 3BD and Fujirebio Diagnostics Sign Worldwide Agreement to Develop Biomarker Assays to Improve Cancer Detection and Management 4
(Date:11/21/2014)... Nov. 20, 2014 Strict laws against distracted ... piloting the North American and European automotive sector towards ... gesture recognition systems that are intuitive and able to ... the industry. New analysis from Frost ... Market in Europe and ...
(Date:11/18/2014)... Nov. 17, 2014   News ... collaborate to develop The Partners Data Lake, an ... Partners Data Lake will allow researcher and clinicians ... treatment and the lives of patients , ... clinical activities across the Partners system, breaking down ...
(Date:11/12/2014)... 12, 2014 Crossmatch™, a leading provider of ... ® fingerprint readers have been deployed throughout Montparnasse ... Central Mexico . The bakery chain implemented the ... issues caused by employees clocking in for each other. ... readers, Montparnasse relied on paper timecards and a mechanical ...
Breaking Biology News(10 mins):Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 2Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 3Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 4Partners HealthCare and EMC Unite to Solve Health Care's Toughest Challenges Using Big Data 2Partners HealthCare and EMC Unite to Solve Health Care's Toughest Challenges Using Big Data 3Partners HealthCare and EMC Unite to Solve Health Care's Toughest Challenges Using Big Data 4Partners HealthCare and EMC Unite to Solve Health Care's Toughest Challenges Using Big Data 5Montparnasse Pasteleria Achieves Time and Attendance Transparency with Crossmatch U.are.U Fingerprint Readers 2
... infects more than 170 million people worldwide. Approximately 80 ... cirrhosis, cancer and also hepatic iron overload. A new ... School of Medicine reveals that HCV not only alters ... 1 (TfR1) but that TfR1 also mediates HCV entry. ...
... For more than a decade, scientists have suspected that hairpin-shaped ... scientists at NC State University have found the first example ... The research, published online in Proceedings of the ... describes how one strand of micro-RNA reduced by more than ...
... and the Woodrow Wilson International Center for Scholars are ... Foundation (NSF) to help realize potential benefits and to ... The grant is supported jointly by three units ... the Division of Environmental Biology, and the Engineering Directorate. ...
Cached Biology News:New Loyola study on hepatitis C virus entry factor 2
...
... Kit Components , 25 g Blocking Reagent , ... 10 ml T7 Elution Buffer , 0.2 ml BL21 ... 0.2 ml BLT5615 glycerol stock , 1010 pfu ... Control Lysate , 50 l S-protein HRP Conjugate , ...
Mouse monoclonal [7A6] to NFAT2 ( Abpromise for all tested applications). entrezGeneID: 4772 SwissProtID: O95644...
... Kits are designed for ultra-sensitive detection ... or PVDF membranes. Since all necessary ... primary antibodies), the WesternBreeze Kits save ... protocol and getting your final results. ...
Biology Products: