About Careers Internship MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

Drug Used by UBC-VCH Scientists to Repair Rare Birth Defect

by Kathy Jones on December 22, 2013 at 4:26 PM
 Drug Used by UBC-VCH Scientists to Repair Rare Birth Defect

A potential cure for a rare eye disease has been developed by University of British Columbia and Vancouver Coastal Health scientists. They have shown 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 (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.

Advertisement

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.



Source: Eurekalert
Font : A-A+

Advertisement

Advertisement
Advertisement

Recommended Readings

Latest Research News

Cerebrospinal Fluid Leaks: Link to Traumatic Brain Injury and Dementia?
Cerebrospinal fluid (CSF) leaks are detected in approximately 1-3% of adults who have experienced a traumatic brain injury.
Astrocyte Activation Through Optogenetics: A New Hope in the Fight Against Alzheimer's
The optogenetic activation of hippocampal astrocytes can be viewed as a novel therapeutic avenue for addressing Alzheimer's disease.
Link Between Cholesterol and Inflammation in Alzheimer's Disease Identified
In Alzheimer's disease condition, the control and adjustment of ABCA7 levels in response to inflammation and the decrease in the availability of cholesterol.
Inflammatory Bowel Disease and Atopic Dermatitis Share Common Links
Atopic dermatitis (AD) and inflammatory bowel disease (IBD) can lead to alterations in the microbiome, and disruptions in the skin and gut barrier.
Vitiligo-Associated Autoimmunity Linked to Lower Health Risks
Gaining insights into mortality risks among vitiligo patients will enhance patient counseling, healthcare monitoring, and overall patient management strategies.
View All
This site uses cookies to deliver our services.By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use  Ok, Got it. Close
MediBotMediBot
Greetings! How can I assist you?MediBot
×

Drug Used by UBC-VCH Scientists to Repair Rare Birth Defect Personalised Printable Document (PDF)

Please complete this form and we'll send you a personalised information that is requested

You may use this for your own reference or forward it to your friends.

Please use the information prudently. If you are not a medical doctor please remember to consult your healthcare provider as this information is not a substitute for professional advice.

Name *

Email Address *

Country *

Areas of Interests