Navigation Links
Breakthrough in birth-defect research
Date:3/6/2008

Scientists have discovered how to prevent certain craniofacial disorders in what could ultimately lead to at-risk babies being treated in the womb.

University of Manchester researchers, working with colleagues at the Stowers Institute for Medical Research in Kansas, have successfully treated mice with Treacher Collins syndrome a rare genetic disorder characterised by underdeveloped facial bones, absent or deformed ears and occasionally cleft palate.

The team had previously found that the condition, which affects one in 10,000 individuals, was caused by a mutation in a single gene called TCOF1. They later discovered that this mutation causes cells, known as neural crest cells, to die prematurely in the early stages of pregnancy resulting in the facial anomalies.

Now, writing in the journal Nature Medicine, the researchers have shown that preventing the neural crest cells from dying allowed mice with the Treacher Collins gene to develop normally. The principle, say the authors, could also be applied to other single-gene birth defects.

This is the first time that a congenital defect has been successfully treated and provides genuine hope within a realistic timeframe of one day preventing these conditions in humans, said Professor Mike Dixon in Manchesters Faculty of Life Sciences.

The method we used to stop the cells dying had significant side-effects but there are other ways to prevent cell death and we are confident the next stage of our research will identify some safe methods.

The anomalies caused by Treacher Collins syndrome, including underdeveloped jaw and cheek bones, occur during the first few weeks of pregnancy.

Since tests to identify the disorder in the unborn child can only be carried out at nine weeks, long after the damage has been done, any future treatment would have to target those babies most at risk.

Treacher Collins is an inherited disorder, so the hope is we could use this method to prevent parents with the condition passing it on to their children, said Professor Dixon.

This is an exciting step in our investigations and, once we have found a safe method of stimulating the production of neural crest cells in mice, we can look at early clinical trials in humans.


'/>"/>

Contact: Aeron Haworth
aeron.haworth@manchester.ac.uk
44-161-275-8383
University of Manchester
Source:Eurekalert

Related medicine news :

1. Smith & Nephew Announces Breakthrough VERILAST(TM) Technology
2. Breakthroughs in nanotechnology on edge of knowledge frontier
3. Pacific Fertility Center Announces Breakthrough in Egg Freezing Technology
4. Stem cells give clues to understanding cancer and make breakthrough in childhood leukaemia
5. Breakthrough in pre-eclampsia test
6. Physics breakthroughs on tap at New Orleans conference
7. At HIMSS 08, RF Technologies(R) Will Host LIVE! Demonstrations of PinPoint(R) Peer-to-Peer Wi-Fi RTLS - a Breakthrough in Location-Aware Solutions
8. MayaTech Establishes Center to Focus on Breakthrough Technology
9. Breakthrough Acai Berry Anti-Aging Facial Applies Benefits of Natures Super-Food to the Skin
10. DuPont Licenses Breakthrough Automotive Coating Technology to German Paint Maker
11. Human genetic variation -- Sciences Breakthrough of the Year
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2016)... ... 2016 , ... To succeed under value-based payments, healthcare providers ... how to move forward, given the need to sustain current operations. PYA has ... an organization’s specific needs. , PYA Principal Martie Ross states, “Healthcare providers want ...
(Date:6/24/2016)... Brooklyn, New York (PRWEB) , ... June 24, 2016 , ... ... medical marijuana patients optimize the ingestion of their medication by matching users with high ... allows users to compare pieces with no commitment. , Inhale was founded by two ...
(Date:6/24/2016)... ... ... Dr. Seema Daulat, a native Texan and University of Texas at Austin ... July 13, 2016. , Dr. Daulat earned her Doctorate of Medicine (MD) at The ... the Agape Clinic serving Dallas’ underprivileged community. , Following medical school, Dr. Daulat completed ...
(Date:6/23/2016)... Los Angeles, CA (PRWEB) , ... June 23, 2016 , ... ... being conducted that may expose a possible link between head and neck cancer in ... individuals participating in the study were evaluated based on whether they had gum disease, ...
(Date:6/23/2016)... ... ... The Mechille Wilson Agency, a Texas-based insurance company that provides coverage to hundreds ... a charity drive to assist a student to be chosen from the local area. ... be presented to the chosen student to help with the growing costs of tuition, ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... 23, 2016 Bracket , a leading clinical ... generation clinical outcomes platform, Bracket eCOA (SM) 6.0, at ... 26 – 30, 2016 in Philadelphia , ... Outcome Assessment product of its kind to fully integrate with ... Bracket eCOA 6.0 is a flexible platform for electronic clinical ...
(Date:6/23/2016)... and INDIANAPOLIS , June ... receiving a Lilly Diabetes Tomorrow,s Leaders Scholarship is any ... scholarship winners, announced today online at www.diabetesscholars.org ... type 1 diabetes stand in the way of academic ... supported the Foundation,s scholarship program since 2012, and continues ...
(Date:6/23/2016)... 2016 Revolutionary technology includes multi-speaker ... , industry leaders in advanced audiology and hearing aid ... Opn ™, the world,s first internet connected hearing aid ... devices.      (Photo: http://photos.prnewswire.com/prnh/20160622/382240 ) ... of ,world firsts,: , TwinLink™ - the ...
Breaking Medicine Technology: