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 Discovery of a Key Regulatory Gene in Cardiac Valve Formation
24.05.2017 | Universität Basel

nachricht Carcinogenic soot particles from GDI engines
24.05.2017 | Empa - Eidgenössische Materialprüfungs- und Forschungsanstalt

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

Im Focus: Using graphene to create quantum bits

In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.

In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

Physicists discover mechanism behind granular capillary effect

24.05.2017 | Physics and Astronomy

Measured for the first time: Direction of light waves changed by quantum effect

24.05.2017 | Physics and Astronomy

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>