Navigation Links
Breakthrough in birth-defect research

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
University of Manchester

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:
(Date:6/26/2016)... ... June 26, 2016 , ... Brent Kasmer, a legally blind and certified personal trainer is ... a fitness app. The fitness app plans to fix the two major problems leading the ... one size fits all type program , They don’t eliminate all the reasons ...
(Date:6/25/2016)... , ... June 25, 2016 , ... "With 30 hand-drawn ... specific project," said Christina Austin - CEO of Pixel Film Studios. , ProHand ... all within Final Cut Pro X . Simply select a ProHand generator and ...
(Date:6/25/2016)... ... June 25, 2016 , ... Conventional wisdom preaches the benefits of ... of the latter, setting the bar too high can result in disappointment, perhaps even ... progress toward their goal. , Research from reveals that behind ...
(Date:6/24/2016)... ... June 24, 2016 , ... The Pulmonary Hypertension Association ... it will receive two significant new grants to support its work to advance ... 25th anniversary by recognizing patients, medical professionals and scientists for their work in ...
(Date:6/24/2016)... ... June 24, 2016 , ... People across the U.S. are ... Code Talker Award, an essay contest in which patients and their families pay tribute ... presented at the 2016 National Society of Genetic Counselors (NSGC) Annual Education Conference (AEC) ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... OAKLAND, N.J. , June 24, 2016 /PRNewswire/ ... in the design, development and manufacturing of collagen ... and regeneration announced today that Bill Messer ... Sales and Marketing to further leverage the growing ... surgery medical devices. Bill joins the ...
(Date:6/24/2016)... Va. , June 24, 2016 The ... set of recommendations that would allow biopharmaceutical ... (HCEI) with entities that make formulary and coverage decisions, ... the "value" of new medicines. The recommendations ... does not appear on the drug label, a prohibition ...
(Date:6/24/2016)... 2016   Pulmatrix, Inc ., (NASDAQ: ... drugs, announced today that it was added to the ... its comprehensive set of U.S. and global equity indexes ... important milestone for Pulmatrix," said Chief Executive Officer ... our progress in developing drugs for crucial unmet medical ...
Breaking Medicine Technology: