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

e discovery that gives great hope to LCA patients and their families, that gene based therapies can and will be developed to restore sight," said Sharon Colle, President and CEO of The Foundation Fighting Blindness, the leading private charity for vision research. "We are proud to fund such important discoveries involving prominent Canadian researchers and institutions."

A careful assessment of patients with some specific genetic types of LCA also demonstrated that their retinal cells (specifically the rod and cone photoreceptors), although not functional for vision, were still present and in relatively good condition. This critical observation will allow researchers to continue on the path towards gene therapies. Therapies targeting different genes for the same disease have already shown success in the United Kingdom and in the US, meaning that LCA patients can now enjoy hope for the future.

A new and innovative technology

SPATA7 was identified using an innovative technology developed in the different laboratories involved in this international collaboration. "We started this protocol about two years ago, and it has already helped us to identify four new genes associated with LCA and RP before we discovered SPATA7," explained Dr Koenekoop.

The technique is based on DNA-chips and involves three steps: first the genetic material of the patient is screened to find mutations in 14 specific LCA and RP genes. The LCA and RP patients that are negative for this detailed screen are then subjected to a second DNA chip, this one to identify significant stretches of homozygosity in SNP markers. SNPs are single nucleotide repeats, which are natural variations in the human genome. These homozygous regions may contain new genes and are carefully probed based on functional information and then subjected to sequencing. "This method is indeed both very powerful and very promising for the future," said Dr. Koenekoop.


'/>"/>

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:9/2/2015)... ... September 02, 2015 , ... The ... the use of special anti-vascular endothelial growth factor agents given by injection into ... does not have a scientific protocol for the many millions diagnosed with it. ...
(Date:9/2/2015)... , Sep. 02, 2015 ... ) has announced the addition of Jain ... Markets and Companies" to their offering. ... several technologies besides fluorescence in situ hybridization ... FISH. Molecular cytogenetics includes application of nanobiotechnology, ...
(Date:9/2/2015)... Sept. 2, 2015  Neurotech Pharmaceuticals, Inc., announced ... the multicenter Phase 2 clinical trial of NT-503 ... of recurrent subfoveal choroidal neovascularization secondary to age ... unique vascular endothelial growth factor (VEGF) receptor protein ... "This landmark proof-of-concept study will evaluate NT-503 ...
(Date:9/2/2015)... FRANCISCO, Calif. , Sept. 2, 2015 ... Bonnie H. Anderson , president and chief executive ... Conference on Wednesday, September 16, 2015 at 10:30 a.m. ... The live audio webcast and subsequent ... . The webcast will be available shortly after conclusion ...
Breaking Biology Technology:StemCell GeneticMed Announces That It Has Started Stem Cell Treatments for Age Related Dry Macular Degeneration (AMG) 2Global Cytogenetics Technologies Study 2015-2025 - Latest Markets and Companies Analysis 2Global Cytogenetics Technologies Study 2015-2025 - Latest Markets and Companies Analysis 3Neurotech Announces First Patient Enrolled in Novel Anti-VEGF Encapsulated Cell Therapy Study 2Neurotech Announces First Patient Enrolled in Novel Anti-VEGF Encapsulated Cell Therapy Study 3Neurotech Announces First Patient Enrolled in Novel Anti-VEGF Encapsulated Cell Therapy Study 4Veracyte to Present at Morgan Stanley Global Healthcare Conference 2
... Advanced Life Sciences Holdings, Inc. (OTCBB: ... and commercialization of novel drugs in the therapeutic areas ... it has suspended operations and terminated its staff due ... (Logo:   http://photos.prnewswire.com/prnh/20080218/ALSLOGO ) "We presently ...
... SAINT PAUL, Minn., May 5, 2011 Image Sensing Systems, ... for its first quarter ended March 31, 2011. ... first quarter was $6.1 million compared to $5.4 million for ... $2.7 million in the first quarter of 2011 compared to ...
... May 5, 2011 In parts of the ... often misdiagnosed. Such misdiagnosis is a waste not only of ... of another mosquito-borne viral infection called chikungunya—its high fever, joint ... mimic the clinical profile of dengue. Recovery from the acute ...
Cached Biology Technology:Advanced Life Sciences Suspends Operations 2Image Sensing Systems Announces First Quarter Financial Results 2Image Sensing Systems Announces First Quarter Financial Results 3Image Sensing Systems Announces First Quarter Financial Results 4Image Sensing Systems Announces First Quarter Financial Results 5SRI International and CTK Biotech Developing Low-Cost Diagnostic for Hard-to-Diagnose Chikungunya Virus 2SRI International and CTK Biotech Developing Low-Cost Diagnostic for Hard-to-Diagnose Chikungunya Virus 3
(Date:8/18/2015)... , Aug. 18, 2015  Navitas today ... contributor to the Submission Content Management webinar ... a non-profit forum. Dedicated to the Implementation of ... neutral platform for industry, vendors, health authorities, ... and work towards a standard method of ...
(Date:8/12/2015)... , August 12, 2015 As ... mobile payment innovation and advanced biometrics technology is accelerating ... way consumers rely on using their credit cards, the ... the future for payment services led by companies in ... ), :  Google, Inc. (NASDAQ: GOOG ), Apple ...
(Date:8/10/2015)... , August 10, 2015 ... Eye Tracking Technology for more than two decades, announces ... for integration into all consumer display formats. The SMI ... integration of eye tracking into consumer tablets, laptops, desktop ... smart glasses. Omnivision,s leading sensor technology contributes to the ...
Breaking Biology News(10 mins):Navitas, a Key Contributor in IRISS Forum Webinar 2Navitas, a Key Contributor in IRISS Forum Webinar 3Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 2Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 3Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 4Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 5Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 6SMI Completes OEM Eye Tracking Platform to Cover All Consumer Displays 2SMI Completes OEM Eye Tracking Platform to Cover All Consumer Displays 3
... The stem cells that produce bird feathers have been visualized ... in a scientific journey that may ultimately shed light on ... 15 issue of the journal Nature, was performed by a ... Medicine of the University of Southern California. , "What we ...
... drought, otherwise harmless snails likely killed off thousands of ... years. , Periwinkle snails, known to science as Littoraria ... drought, which lasted from 1999 to 2001, weakened and ... so extensively that the snails moved from finishing off ...
... Johns Hopkins' senior hospital epidemiologist and flu expert is ... as the best means of protecting patients and hospital ... Studies by other United States researchers show that voluntary ... year, nearly 40,000 Americans die from influenza, many of ...
Cached Biology News:USC researchers track down the stem cells that create feathers 2USC researchers track down the stem cells that create feathers 3Research: Snails were overlooked contributors to marsh destruction 2Research: Snails were overlooked contributors to marsh destruction 3Johns Hopkins flu expert calls for mandatory vaccination of health care workers 2Johns Hopkins flu expert calls for mandatory vaccination of health care workers 3
All-in-one mix, removes primers and dNTPs from PCR product for following direct sequencing...
...
...
... APAgene kits are designed to rapidly ... using our patented APA Technology. APAgene provides ... competitive price. All necessary ingredients are provided ... kit can be used for insert-end amplification ...
Biology Products: