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 incredible 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

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:4/27/2016)... ... April 27, 2016 , ... ... its Scientific Advisory Board. Dr. Lamka will assist PathSensors in expanding the use ... , PathSensors deploys the CANARY® test platform for the detection of harmful pathogens, ...
(Date:4/27/2016)... ... 2016 , ... Global Stem Cells Group and the University of ... research and development initiatives for potential stem cell protocol management for 2016 – 2020. ... executives began meeting to establish a working agenda and foster initiatives to promote stem ...
(Date:4/26/2016)... ... April 27, 2016 , ... Cameron ... LLP as an associate in the firm’s Intellectual Property practice group. , Clients ... electromechanical patent applications. He has an electrical engineering and computer engineering background, and ...
(Date:4/26/2016)... ... April 26, 2016 , ... ... announces the latest technology innovation for its Volume Pattern Generator (VPG) line of ... production of advanced photomasks as well as a solution for mid volume direct ...
Breaking Biology Technology:
(Date:4/13/2016)... , April 13, 2016  IMPOWER physicians supporting ... are setting a new clinical standard in telehealth thanks ... By leveraging the higi platform, IMPOWER patients can routinely ... pulse and body mass index, and, when they opt ... and convenient visit to a local retail location at ...
(Date:3/31/2016)... R.I. , March 31, 2016  Genomics firm ... of founding CEO, Barrett Bready , M.D., who ... members of the original technical leadership team, including Chief ... President of Product Development, Steve Nurnberg and Vice President ... returned to the company. Dr. Bready served ...
(Date:3/23/2016)... March 23, 2016 ... Sicherheit Gesichts- und Stimmerkennung mit Passwörtern ... (NASDAQ: MESG ), ein führender Anbieter ... Unternehmen mit SpeechPro zusammenarbeitet, um erstmals dessen ... wird die Möglichkeit angeboten, im Rahmen mobiler ...
Breaking Biology News(10 mins):