Featured Research

from universities, journals, and other organizations

Genetic Differences That Cause Childhood Eye Disease

Date:
November 3, 2008
Source:
University of Alberta Faculty of Medicine & Dentistry
Summary:
Medical researchers have unlocked part of the mystery underlying a childhood eye disease. New research shows how children with some types of glaucoma end up with missing or extra pieces of DNA.

Medical researchers at the University of Alberta have unlocked part of the mystery underlying a childhood eye disease. New research shows how children with some types of glaucoma end up with missing or extra pieces of DNA.

The missing or extra bits of DNA are called copy number variations (CNVs). The U of A research team had previously shown how they play a major role in causing some types of pediatric glaucoma – a disease that can lead to blindness. In their current study, published in Human Molecular Genetics, the authors describe how the CNVs that cause childhood glaucomas are formed.

Using genetic samples from patients living with pediatric glaucoma, the research team studied the locations where extra or missing pieces of DNA begin and end. Close examination of these break points allowed the team to determine how these copy number variations occur.

"Our findings broaden the mechanisms known to cause copy number variations, which improves our understanding not only of pediatric glaucoma, but also of the growing number of genetic diseases linked to copy number variations, including heart disease and psoriasis. We're really only looking at the tip of the iceberg in terms of how CNVs cause disease." said Dr. Ordan Lehmann, an associate professor with the Faculty of Medicine & Dentistry at the University of Alberta and an ophthalmologist with Alberta Health Services. "These findings will also help us to improve the detection of pediatric glaucoma and, by allowing earlier diagnosis, will help lead to earlier treatment of this condition."

The research team has received funding from the Emerging Research Teams Grant Program, which was created by the Faculty of Medicine & Dentistry and Alberta Health Services to provide startup money to promising research groups.

The study was undertaken in collaboration with researchers at the University of Chicago, the Wellcome Trust Sanger Institute, the Leicester Royal Infirmary and the UCL Institute of Child Health.


Story Source:

The above story is based on materials provided by University of Alberta Faculty of Medicine & Dentistry. Note: Materials may be edited for content and length.


Cite This Page:

University of Alberta Faculty of Medicine & Dentistry. "Genetic Differences That Cause Childhood Eye Disease." ScienceDaily. ScienceDaily, 3 November 2008. <www.sciencedaily.com/releases/2008/10/081031122449.htm>.
University of Alberta Faculty of Medicine & Dentistry. (2008, November 3). Genetic Differences That Cause Childhood Eye Disease. ScienceDaily. Retrieved August 29, 2014 from www.sciencedaily.com/releases/2008/10/081031122449.htm
University of Alberta Faculty of Medicine & Dentistry. "Genetic Differences That Cause Childhood Eye Disease." ScienceDaily. www.sciencedaily.com/releases/2008/10/081031122449.htm (accessed August 29, 2014).

Share This




More Health & Medicine News

Friday, August 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Killer Amoeba Found in Louisiana Water System

Killer Amoeba Found in Louisiana Water System

AP (Aug. 28, 2014) State health officials say testing has confirmed the presence of a killer amoeba in a water system serving three St. John the Baptist Parish towns. (Aug. 28) Video provided by AP
Powered by NewsLook.com
Who Could Be Burnt by WHO's E-Cigs Move?

Who Could Be Burnt by WHO's E-Cigs Move?

Reuters - Business Video Online (Aug. 28, 2014) The World Health Organisation has called for the regulation of electronic cigarettes as both tobacco and medical products. Ciara Lee looks at the impact of the move on the tobacco industry. Video provided by Reuters
Powered by NewsLook.com
CDC Director On Ebola Outbreak: 'It's Worse Than I Feared'

CDC Director On Ebola Outbreak: 'It's Worse Than I Feared'

Newsy (Aug. 28, 2014) CDC director Tom Frieden says the Ebola outbreak is even worse than he feared. But he also said there's still hope to contain it. Video provided by Newsy
Powered by NewsLook.com
How A 'Rule Of Thumb' Could Slow Down Drinking

How A 'Rule Of Thumb' Could Slow Down Drinking

Newsy (Aug. 28, 2014) A study suggests people who follow a "rule of thumb" when pouring wine dispense less than those who don't have a particular amount in mind. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins