Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

The genetics of blindness

09.10.2003


Treatment for the most common inherited cause of blindness, retinitis pigmentosa, is one step closer, according to investigators at the Research Institute of the McGill University Health Centre (MUHC). They are the first to link two new gene mutations in two French-Canadian families to loss of vision in humans. Their findings are published in this month’s issue of the American Journal of Ophthalmology. This project was funded by the Canadian Institutes of Health Research (CIHR), le Fonds de la recherche en santé du Québec (FRSQ) and the Foundation Fighting Blindness - Canada.

Approximately 1.5 million people worldwide are affected by retinitis pigmentosa, which at the moment has no cure. This disease causes vision loss by progressive degeneration and death of the cells that make up the retina, the portion of the eye that responds to light.

"Retinitis pigmentosa is a devastating and complex disease," says principal investigator, Dr. Robert Koenekoop, director of pediatric ophthalmology at the Montreal Children’s Hospital of the MUHC. “Many genes, gene mutations and symptoms are involved. The first steps to developing a treatment are the characterization of all these factors. Important progress has been made by identifying two important gene mutations present in the French-Canadian population.”



Koenekoop in collaboration with MUHC geneticist, Dr. Guy Rouleau, examined two very large French-Canadian families afflicted with retinitis pigmentosa for four generations. Ophthalmic evaluations and genetic analysis were used to characterize the gene mutations and the resulting phenotype. They demonstrated that these mutations resulted in variable, severe forms of the disease and in some cases other neurological disorders, such as hearing loss.

"Our findings show that different gene mutations result in different symptoms of the disease," says Rouleau. "Our study will provide hope to those families who have suffered from this disease for generations and will lead to new screening and diagnostic tests."

"We were fortunate to have the facilities and expertise to make this discovery," concludes Koenekoop. "This project was an excellent example of genetic and ophthalmic cross-disciplinary research."

About the Research Institute of the McGill University Health Centre

The Research Institute of the McGill University Health Centre (MUHC), located in Montreal, Quebec, is Canada’s largest concentration of biomedical and health-care researchers. The institute has over 500 researchers, nearly 650 graduate and post-doctoral students and 306 laboratories devoted to research. The mission of the institute is to facilitate investigator-initiated and discovery-driven research that creates new knowledge. This research is inextricably linked to clinical programs, which provide a bench-to-bedside-to-community continuum. The MUHC research institute is renowned as a world-class research institution that operates at the forefront of new knowledge, innovation, trends, and technologies.

About the Canadian Institutes of Health Research

CIHR is Canada’s premier agency for health research. Its objective is to excel, according to internationally accepted standards of scientific excellence, in the creation of new knowledge and its translation into improved health for Canadians, more effective health services and products, and a strengthened health care system.

For more information, please contact:
Christine Zeindler, MSc
Communications Coordinator (Research)
McGill University Health Centre Communications Services
www.muhc.ca
(514) 934-1934 ext. 36419
pager: (514) 406-1577

Christine Zeindler | EurekAlert!
Further information:
http://www.mcgill.ca/
http://www.muhc.ca

More articles from Health and Medicine:

nachricht Hot cars can hit deadly temperatures in as little as one hour
24.05.2018 | Arizona State University

nachricht 3D images of cancer cells in the body: Medical physicists from Halle present new method
16.05.2018 | Martin-Luther-Universität Halle-Wittenberg

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Molecular switch will facilitate the development of pioneering electro-optical devices

A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.

The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

When corals eat plastics

24.05.2018 | Ecology, The Environment and Conservation

Surgery involving ultrasound energy found to treat high blood pressure

24.05.2018 | Medical Engineering

First chip-scale broadband optical system that can sense molecules in the mid-IR

24.05.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>