Featured Research

from universities, journals, and other organizations

Discovery Provides Hope For Sufferers Of Disfiguring Bone Disease

Date:
March 9, 2009
Source:
University of East Anglia
Summary:
Researchers have made a major genetic discovery that could lead to the effective treatment for sufferers of craniosynostosis - a severe childhood bone disease.

Researchers at the University of East Anglia (UEA) have made a major genetic discovery that could lead to the effective treatment for sufferers of craniosynostosis - a severe childhood bone disease.

Related Articles


Craniosynostosis develops in the womb and affects one in every 2500 live births. Bones in the skulls and face of sufferers fuse together prematurely causing a range of distressing developmental problems. Some of the affected children also suffer from defects in the limbs, brain, kidneys and lungs. Depending on the severity of their disease and its underlying cause, children suffering with craniosynostosis survive from as little as a few days to as long as early adulthood.

Led by Dr Mohammad Hajihosseini, the UEA scientists focused on Apert Syndrome - the most severe of the craniosynostosis range of diseases that is caused by mutations in a gene called Fibroblast Growth Factor Receptor 2 (FGFR2). They identified a key offending molecule – FGF10 and demonstrated for the first time that ‘dampening down’ the levels of this offending molecule can reverse the effects of the disease.

Published this month in the journal ‘Developmental Dynamics’, the findings are the culmination of five years work and vastly increase our understanding of this tragic childhood disease.

“The next step is to research how best to translate this discovery into an effective treatment,” said Dr Hajihosseini. “Given the appropriate funding, in the not too distant future a gel or similar vehicle could be developed that can be surgically applied to the fusing joints of the skull – thus reversing the effects of the disease.”

Reference: Developmental Dynamics, February 2009


Story Source:

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


Cite This Page:

University of East Anglia. "Discovery Provides Hope For Sufferers Of Disfiguring Bone Disease." ScienceDaily. ScienceDaily, 9 March 2009. <www.sciencedaily.com/releases/2009/03/090302091233.htm>.
University of East Anglia. (2009, March 9). Discovery Provides Hope For Sufferers Of Disfiguring Bone Disease. ScienceDaily. Retrieved November 23, 2014 from www.sciencedaily.com/releases/2009/03/090302091233.htm
University of East Anglia. "Discovery Provides Hope For Sufferers Of Disfiguring Bone Disease." ScienceDaily. www.sciencedaily.com/releases/2009/03/090302091233.htm (accessed November 23, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, November 23, 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
Raw: Paralyzed Marine Walks With Robotic Braces

Raw: Paralyzed Marine Walks With Robotic Braces

AP (Nov. 21, 2014) Marine Corps officials say a special operations officer left paralyzed by a sniper's bullet in Afghanistan walked using robotic leg braces in a ceremony to award him a Bronze Star. (Nov. 21) Video provided by AP
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

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