Featured Research

from universities, journals, and other organizations

Scientists use drug to repair rare birth defect

Date:
December 20, 2013
Source:
University of British Columbia
Summary:
Scientists have developed a potential cure for a rare eye disease, showing for the first time that a drug can repair a birth defect. They formulated the drug Ataluren into eye drops, and found that it consistently restored normal vision in mice who had aniridia, a condition that severely limits the vision of about 5,000 people in North America.

University of British Columbia and Vancouver Coastal Health scientists have developed a potential cure for a rare eye disease, showing for the first time that a drug can repair a birth defect.

Related Articles


They formulated the drug Ataluren into eye drops, and found that it consistently restored normal vision in mice who had aniridia (ANN-uh-ridee- uh), a condition that severely limits the vision of about 5,000 people in North America. A small clinical trial with children and teens is expected to begin next year in Vancouver, the U.S. and the U.K.

Aniridia is caused by the presence of a "nonsense mutation" -- an extra "stop sign" on the gene that interrupts production of a protein crucial for eye development. Aniridia patients don't have an iris (the coloured ring around the pupil), and suffer many other eye abnormalities.

Ataluren is believed to have the power to override the extra stop sign, thus allowing the protein to be made. The UBC-VCH scientists initially thought the drug would work only in utero -- giving it to a pregnant mother to prevent aniridia from ever arising in her fetus. But then they gave their specially formulated Ataluren eye drops, which they call START, to two-week-old mice with aniridia, and found that it actually reversed the damage they had been born with.

"We were amazed to see how malleable the eye is after birth," said Cheryl Gregory-Evans, associate professor of ophthalmology and visual sciences and a neurobiologist at the Vancouver Coastal Health Research Institute. "This holds promise for treating other eye conditions caused by nonsense mutations, including some types of macular degeneration. And if it reverses damage in the eye, it raises the possibility of a cure for other congenital disorders. The challenge is getting it to the right place at the right time."

A video about the study is available at http://youtu.be/L9Gx1bUxCUg.

BACKGROUND | A POTENTIAL CURE FOR ANIRIDIA

Bad vision at birth, worse vision later: Aniridia is apparent at birth because of the missing iris. Toddlers with aniridia need eyeglasses to see, sunglasses or darkened contact lenses to protect their eyes from overexposure to light, and cannot read small text. Their eyes are continually moving, making it difficult for them to focus, and have higher internal pressure (glaucoma), which damages the optic nerve as they get older. They are also prone to corneal damage in their teens and early adulthood. Eventually, most people with aniridia are considered legally blind, and must resort to Braille or expensive electronic aids to read.

The plasticity of the eye: The reversal of tissue damage in young mice, published online today by the Journal of Clinical Investigation, fits with the fact that mammals' eyes aren't fully formed at birth. Human babies don't discern colours until they are six months old, and their depth perception isn't fully developed until the age of five.

Nonsense suppressor: Ataluren, made by the New Jersey-based PTC Therapeutics, is thought to be a "nonsense suppressor" -- it silences the extra "stop codon" on the gene and allows a complete protein to be assembled. The drug is currently being tested as a treatment for cystic fibrosis and Duchenne muscular dystrophy, which are also caused by nonsense mutations.

A gritty solution: Gregory-Evans' first attempt at creating Ataluren eye drops proved unsuccessful. The drug didn't dissolve, and thus irritated the mice's eyes. So she turned to Kishor Wasan, a professor and associate dean in the Faculty of Pharmaceutical Sciences, who ground the drug into a very fine powder and combined it with a solution that adhered better to the eye.


Story Source:

The above story is based on materials provided by University of British Columbia. Note: Materials may be edited for content and length.


Journal Reference:

  1. Cheryl Y. Gregory-Evans, Xia Wang, Kishor M. Wasan, Jinying Zhao, Andrew L. Metcalfe, Kevin Gregory-Evans. Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. Journal of Clinical Investigation, 2013; DOI: 10.1172/JCI70462

Cite This Page:

University of British Columbia. "Scientists use drug to repair rare birth defect." ScienceDaily. ScienceDaily, 20 December 2013. <www.sciencedaily.com/releases/2013/12/131220143230.htm>.
University of British Columbia. (2013, December 20). Scientists use drug to repair rare birth defect. ScienceDaily. Retrieved November 22, 2014 from www.sciencedaily.com/releases/2013/12/131220143230.htm
University of British Columbia. "Scientists use drug to repair rare birth defect." ScienceDaily. www.sciencedaily.com/releases/2013/12/131220143230.htm (accessed November 22, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, November 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

WFP: Ebola Risks Heightened Among Women Throughout Africa

WFP: Ebola Risks Heightened Among Women Throughout Africa

AFP (Nov. 21, 2014) Having children has always been a frightening prospect in Sierra Leone, the world's most dangerous place to give birth, but Ebola has presented an alarming new threat for expectant mothers. Duration: 00:37 Video provided by AFP
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) Researchers find that as people approach new decades in their lives they make bigger life decisions. Video provided by Newsy
Powered by NewsLook.com
Ebola: Life Without School in Guinea

Ebola: Life Without School in Guinea

AFP (Nov. 21, 2014) Following the closure of schools and universities in Guinea because of the Ebola virus, students look for temporary work or gather in makeshift classrooms to catch up on their syllabus. Duration: 02:14 Video provided by AFP
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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