Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Quebec family key to discovery of blindness disease gene

18.10.2005

Researchers at the MUHC have discovered a new gene for retinitis pigmentosa (RP) - a group of inherited diseases that result in degeneration of the eye’s retina. Patients suffer gradual vision loss - often described as like seeing the world through a rolled up newspaper - which results in complete blindness in as little as 6 months. The new discovery published in the journal Human Genetics this month was achieved thanks to the involvement of a family in Quebec, where genetic diseases are often more prevalent than in other parts of the world. This discovery provides a greater understanding of RP, facilitating prenatal, preclinical and carrier testing and advancing the development of treatments and cures for the 1.5 million sufferers of this disease worldwide.

"This study is a perfect example of how clinical practice and basic research combine to facilitate discovery and improve health care-one of the great benefits of academic health centres like the MUHC," says Dr. Koenekoop, Director of the McGill Ocular Genetics Centre, and one of the principal researchers of the new study. The research, which involved collaboration with Dr. Shomi Bhattacharya at the Molecular Genetic Division of The Institute of Ophthalmology in the United Kingdom, began five years ago with the establishment of the McGill Ocular Genetics Centre at the MUHC. "The family members that became part of our study were patients at our clinic," says Dr. Koenekoop. "Using a genetic technique known as linkage exclusion, we were able to exclude the currently known genes of RP and with further linkage studies, we were able to isolate this new gene from genetic samples of the family members."

Quebec is the perfect place to study genetic diseases like RP; the Quebec population - numbering approximately 6 million - is known as a founder population, which can be traced back to around only 250 forefathers; as a result this small gene pool provides the ideal population for the study of genetic disease. "Genetic diseases like RP are more common in founder populations," says Dr. Koenekoop. "Our patients are enthusiastic to participate in these studies, knowing that this research may ultimately lead to improved treatments and cures."

This new gene discovery brings the total number of genes associated with retinitis pigmentosa to over 30. Scientists estimate there may be another 40-50 genes associated with this disease still left to discover, making this one of the most complex human conditions in the world. "Each gene discovery is vital because it highlights a disease pathway, which provides yet another way for us to help patients," notes Dr. Koenekoop. Although scientists have only identified around half the genes they believe may be involved in RP, this has not hindered the development of cutting-edge treatments, with human clinical trails already underway.

This study was funded by The Foundation Fighting Blindness Canada.

The McGill University Health Centre is a comprehensive academic health institution with an international reputation for excellence in clinical programs, research and teaching. The MUHC is a merger of five teaching hospitals affiliated with the Faculty of Medicine at McGill University--the Montreal Children’s, Montreal General, Royal Victoria, and Montreal Neurological Hospitals, as well as the Montreal Chest Institute. Building on the tradition of medical leadership of the founding hospitals, the goal of the MUHC is to provide patient care based on the most advanced knowledge in the health care field, and to contribute to the development of new knowledge.

Ian Popple | MUHC
Further information:
http://www.muhc.ca.

More articles from Life Sciences:

nachricht New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg

nachricht Stingless bees have their nests protected by soldiers
24.02.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>