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 Protein interaction helps Yersinia cause disease
21.08.2018 | Schwedischer Forschungsrat - The Swedish Research Council

nachricht Nanobot pumps destroy nerve agents
21.08.2018 | American Chemical Society

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: It’s All in the Mix: Jülich Researchers are Developing Fast-Charging Solid-State Batteries

There are currently great hopes for solid-state batteries. They contain no liquid parts that could leak or catch fire. For this reason, they do not require cooling and are considered to be much safer, more reliable, and longer lasting than traditional lithium-ion batteries. Jülich scientists have now introduced a new concept that allows currents up to ten times greater during charging and discharging than previously described in the literature. The improvement was achieved by a “clever” choice of materials with a focus on consistently good compatibility. All components were made from phosphate compounds, which are well matched both chemically and mechanically.

The low current is considered one of the biggest hurdles in the development of solid-state batteries. It is the reason why the batteries take a relatively long...

Im Focus: Color effects from transparent 3D-printed nanostructures

New design tool automatically creates nanostructure 3D-print templates for user-given colors
Scientists present work at prestigious SIGGRAPH conference

Most of the objects we see are colored by pigments, but using pigments has disadvantages: such colors can fade, industrial pigments are often toxic, and...

Im Focus: Unraveling the nature of 'whistlers' from space in the lab

A new study sheds light on how ultralow frequency radio waves and plasmas interact

Scientists at the University of California, Los Angeles present new research on a curious cosmic phenomenon known as "whistlers" -- very low frequency packets...

Im Focus: New interactive machine learning tool makes car designs more aerodynamic

Scientists develop first tool to use machine learning methods to compute flow around interactively designable 3D objects. Tool will be presented at this year’s prestigious SIGGRAPH conference.

When engineers or designers want to test the aerodynamic properties of the newly designed shape of a car, airplane, or other object, they would normally model...

Im Focus: Robots as 'pump attendants': TU Graz develops robot-controlled rapid charging system for e-vehicles

Researchers from TU Graz and their industry partners have unveiled a world first: the prototype of a robot-controlled, high-speed combined charging system (CCS) for electric vehicles that enables series charging of cars in various parking positions.

Global demand for electric vehicles is forecast to rise sharply: by 2025, the number of new vehicle registrations is expected to reach 25 million per year....

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

LaserForum 2018 deals with 3D production of components

17.08.2018 | Event News

Within reach of the Universe

08.08.2018 | Event News

A journey through the history of microscopy – new exhibition opens at the MDC

27.07.2018 | Event News

 
Latest News

A paper battery powered by bacteria

21.08.2018 | Power and Electrical Engineering

Protein interaction helps Yersinia cause disease

21.08.2018 | Life Sciences

Biosensor allows real-time oxygen monitoring for 'organs-on-a-chip'

21.08.2018 | Medical Engineering

VideoLinks
Science & Research
Overview of more VideoLinks >>>